Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft... |
ORPHA:952 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Optic atro... |
ORPHA:1590 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anteverted n... |
OMIM:615583 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Cyclopia, Optic nerve hypoplasia, Micrognathia,... |
OMIM:301043 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r... |
ORPHA:3186 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Shor... |
ORPHA:233 |
Trisomy 13 |
|
Anophthalmia, Narrow chest, Atrial septal defect, Iris coloboma, Bilateral single transverse palm... |
ORPHA:3378 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... |
OMIM:184705 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Rhizomelia, Anteverted ... |
ORPHA:50945 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia... |
ORPHA:508498 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen... |
OMIM:154400 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, Malar fl... |
OMIM:248390 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly ro... |
ORPHA:2972 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Short neck, Ankyloblepharon, ... |
OMIM:263650 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Abnormality of the vertebral column, Microphthalm... |
OMIM:600776 |
Chime Syndrome |
|
Depressed nasal ridge, Short palm, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of ... |
ORPHA:3474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoul... |
OMIM:274000 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Craniosynostosis, Missing ribs, Micrognathia, Short tibia, Humeroradial synostosis, A... |
OMIM:251230 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Hyp... |
ORPHA:138 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Cerebral calcification, Camptoda... |
ORPHA:1466 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... |
OMIM:601357 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha... |
ORPHA:1908 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Toe syndactyly, Sclerocornea, Sandal gap, Short neck, Microc... |
ORPHA:251038 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
1Q21.1 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris coloboma, Broad hallux phalanx,... |
ORPHA:250989 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares |
ORPHA:3074 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, Atrial septal defect, Dandy-Walker malformation, Patent... |
OMIM:609029 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Wide nose, Ventricular septal defect, Hearing impairment, Micrognathia, Microcephaly,... |
ORPHA:1727 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... |
OMIM:256520 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus ... |
OMIM:617516 |
Cat Eye Syndrome |
|
Epicanthus, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Mic... |
OMIM:115470 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, ... |
OMIM:603457 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Cleft ala nasi, Osteopathia s... |
OMIM:305600 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar emine... |
OMIM:239800 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Spina bifida, Microg... |
OMIM:616038 |
Trisomy 18 |
|
Microcornea, Pointed helix, Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral sin... |
ORPHA:3380 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Emanuel Syndrome |
|
Congenital hip dislocation, Hooded eyelid, Micrognathia, Atrial septal defect, Agenesis of corpus... |
ORPHA:96170 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Microceph... |
ORPHA:398156 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Co... |
ORPHA:1101 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... |
OMIM:167730 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia... |
OMIM:161200 |
Holoprosencephaly |
|
Anophthalmia, Short neck, Synophrys, Panhypopituitarism, Depressed nasal ridge, Abnormal form of ... |
ORPHA:2162 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,... |
ORPHA:1786 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Mi... |
OMIM:616462 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Fusion of middle ear ossicles... |
OMIM:613717 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal opacity, Microc... |
ORPHA:290 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clino... |
OMIM:260660 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular sept... |
ORPHA:85194 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of th... |
OMIM:607597 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micromelia, Aplastic clavicle, Postaxial po... |
OMIM:616546 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Jacobsen Syndrome |
|
Micrognathia, Short neck, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma... |
OMIM:147791 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Aplasia of the pectoralis major muscle, Abnormal carpal morphology, Finger cl... |
OMIM:142900 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Narrow chest, Advanced eruption of teeth, Distally... |
OMIM:619148 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Coloboma, Pectoral muscle hypoplasia/aplasia, Conductive hearing impai... |
OMIM:136760 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Optic disc hypoplasia, Hypergonadotropic hypogonadis... |
OMIM:300514 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Malformed lacrimal duct, Cutaneous... |
OMIM:219000 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Ventricular septal defect, Posteriorly rotated ea... |
OMIM:616920 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... |
ORPHA:29072 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Microcornea, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nasal... |
ORPHA:1791 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Short neck, Abnormal aortic arch morphology, Hypoplasia... |
ORPHA:567 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Anteverted nares, Single transverse palmar crease, Narrow nas... |
OMIM:236500 |
Kniest Dysplasia |
|
Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora... |
ORPHA:485 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypoparathyroidism, Inguinal hernia, Posterior embryotoxon, Ventricu... |
OMIM:192430 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Conductive hearing i... |
OMIM:218600 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing... |
ORPHA:508488 |
Walker-Warburg Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abnormal optic nerve morpholo... |
ORPHA:899 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, Short neck, Microcephaly, Underdeveloped nasal alae, Abn... |
ORPHA:2516 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Protruding ear, Hypoplasia of the zygomatic bone, Low-s... |
ORPHA:1778 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Abnormality of the maxill... |
ORPHA:141099 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Hypoplasia of the iris, Agenesis of corpus callosum, Iri... |
OMIM:222448 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Sensorineural hearing im... |
ORPHA:1131 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Long nose, Underdeveloped nasal alae, Aplasia/Hy... |
ORPHA:1968 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Curly eyelashes, Micrognathia, Microcephaly, Prominent nose... |
OMIM:301022 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, Thin corpus callosum |
OMIM:206700 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Microcornea, Laterally curved eyebro... |
OMIM:300166 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Telecanthus, Corneal opacity, Anteverted nares, Depressed nasal brid... |
ORPHA:1064 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... |
ORPHA:2092 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Coloboma, Eyelid coloboma, Shallow orbits, Phocomelia,... |
OMIM:268300 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... |
OMIM:269860 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Sclero... |
OMIM:216340 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic scapulae, Congenital hip dislocation, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Abnormal pupil morphology, Midline facial cleft, Microcornea, Dol... |
ORPHA:3374 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Low-set ears, Aniridia, Malar fla... |
OMIM:612469 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... |
ORPHA:245 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Hydrocephalus, Coarctation of aorta, Bifid thoracic vert... |
ORPHA:268249 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Pachygyria, Agen... |
ORPHA:2308 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Missing ribs, External ear malfor... |
ORPHA:1647 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis |
OMIM:619433 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Eyelid colobo... |
ORPHA:306542 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Deviation of finger, Narrow mouth, Mala... |
ORPHA:2412 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Protruding ear |
ORPHA:319171 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal |
ORPHA:1513 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitary median maxil... |
ORPHA:66625 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Agenesis of corpus callosum, Postaxial foot polydactyly, Deep palmar cr... |
OMIM:301056 |
Recombinant Chromosome 8 Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Micrognathia, Pectus excav... |
OMIM:179613 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Hia... |
ORPHA:2538 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Preauricular skin furrow, Hearing abno... |
ORPHA:1555 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Abnormality of skin pigmenta... |
ORPHA:84 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Dandy-Walker malfor... |
ORPHA:564 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Prominent nasal... |
ORPHA:401935 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Toluene Embryopathy |
|
Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Short nose |
ORPHA:1920 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Hearing impairment, Microcephaly, Pectus excavatum, Abnormal digit morphol... |
OMIM:268850 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Sho... |
ORPHA:2570 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones ... |
ORPHA:371428 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Atrial septal defect, Inguinal hernia, Ventricular septal defect, Choanal ... |
OMIM:608572 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Synophrys, Atrial septal defect, Pulmonary artery atresia... |
OMIM:618316 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Polydactyly, Talipes equinovaru... |
OMIM:613885 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Cleft ala nasi, Abnormal thorax morphology, Orbital enc... |
OMIM:164180 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger... |
ORPHA:920 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Narrow chest, 2-5 toe syndactyly, Patent foramen ovale, 2-4 finge... |
OMIM:617746 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ... |
ORPHA:435638 |
Wagr Syndrome |
|
Cataract, Micrognathia, Microcephaly, Hearing abnormality, Aplasia/Hypoplasia of the iris, Scolio... |
ORPHA:893 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Prominent nose, Lo... |
ORPHA:2636 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Parie... |
OMIM:603671 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the m... |
OMIM:109120 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Short neck, Epicanthus inversus, Agene... |
OMIM:249000 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventricular septal defect, Hypogonadotropic hypogonadism, Hearing impairment, Tapered... |
OMIM:617159 |
Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Cataract, Aplasia/Hypoplasia of the patella, Aniridia, Ptosis |
ORPHA:1069 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpal, Eruption failu... |
ORPHA:476126 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Cataract, Rhizomelia, Sclerocornea, Precocious puberty, 2-3 toe syndact... |
OMIM:615877 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Hydranencephaly, Truncus arte... |
OMIM:601355 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodact... |
OMIM:614701 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Branchial fist... |
ORPHA:861 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Abnormal cl... |
ORPHA:93267 |
Occipital Horn Syndrome |
|
Cerebral calcification, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow ... |
ORPHA:198 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... |
ORPHA:1452 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... |
ORPHA:1512 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... |
OMIM:314390 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Brachydactyly... |
ORPHA:1390 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Short neck, Abnormality of the thyroid ... |
ORPHA:2563 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, Biparietal narrowing, S... |
ORPHA:99776 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath... |
ORPHA:2189 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel... |
OMIM:618889 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Agenesis of c... |
OMIM:206900 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... |
ORPHA:2369 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Distal Deletion 6P |
|
Micrognathia, Hypoplasia of the iris, Vertebral segmentation defect, Short palm, Clinodactyly of ... |
ORPHA:96125 |
Diprosopus |
|
Abnormality of retinal pigmentation, Abnormality of the nose, External ear malformation, Anenceph... |
ORPHA:1681 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:612474 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micro... |
OMIM:602361 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Abnormally... |
OMIM:249420 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Carious ... |
OMIM:265800 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... |
OMIM:301030 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle... |
OMIM:600920 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Anophthalmia, Ventricular septal defect, Micrognathia, Pat... |
OMIM:601186 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Broad nasal tip, Hypoplastic left atrium, ... |
OMIM:615524 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Juvenile cataract, Depressed nasal bridge |
ORPHA:438178 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of skin pigmenta... |
ORPHA:193 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... |
ORPHA:93323 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1798 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Patent ductus arteriosus, Up... |
ORPHA:2095 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... |
OMIM:246560 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:615355 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment |
ORPHA:85179 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Large earlobe, Hypoplasia of the zygomatic bone, Macrotia |
ORPHA:2715 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Trisomy 12P |
|
Epicanthus, Micrognathia, Short neck, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Abnormal... |
ORPHA:1699 |
Kahrizi Syndrome |
|
Bulbous nose, Cataract, Iris coloboma, Wide nasal bridge |
OMIM:612713 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Endocardial fibroelastosis, Retinal degeneration, Hypoplasia of... |
OMIM:607014 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Cerebellar vermis hypoplasia, Conductive hearing impairment, Iris coloboma, Dandy-W... |
OMIM:605627 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Sensorineural ... |
ORPHA:560 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Trisomy 1Q |
|
Omphalocele, Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Arachnodactyl... |
ORPHA:261344 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Cataract |
OMIM:618379 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Cataract, Abnormal pinna morphology, Microcephaly, Abnormality of ... |
ORPHA:79321 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia ... |
ORPHA:411986 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormality of retinal pigmentation, Chorioretin... |
OMIM:251270 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:1295 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin... |
OMIM:300845 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Abnormal pinna morphology, Sacr... |
OMIM:614175 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Barrel-shaped che... |
OMIM:300712 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Micrognathia, Aplasia/Hypoplasia of the dista... |
ORPHA:1234 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the ... |
ORPHA:3301 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal sternum morphology, Hy... |
ORPHA:42775 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Sclerocornea, Patent ductus arteriosus... |
ORPHA:77298 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty... |
ORPHA:261330 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasi... |
ORPHA:1067 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Tapered finger, Kyphosis, Sensorineural hearing impairmen... |
ORPHA:2479 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Hearing abnormality, Abnormality of the pulmonary artery |
ORPHA:1065 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hypoplasia of the zygom... |
ORPHA:1812 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, Atrial septal defect, Patent foramen ovale, Highly arched eyebrow, Wide ... |
OMIM:270450 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Hydrocephalus, Wide nasal bridge, Short columella, Hypo... |
OMIM:613603 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, Shallow orbits, Thickened helices, Broad ribs, Broad... |
OMIM:608328 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Cataract, Anteverted ... |
ORPHA:2791 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Sensorineural hearing im... |
ORPHA:100084 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Bilateral singl... |
ORPHA:44 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ... |
OMIM:156510 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Chorioretinal colobo... |
ORPHA:959 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Short neck, Dental malocclusion, Wide n... |
OMIM:157980 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Mic... |
ORPHA:2554 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Microcornea, Pachygyria, Low-set, posteriorly rotated... |
ORPHA:2510 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Distal clavicular thinning, Micromelia, Microceph... |
OMIM:600092 |
Robinow Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, Marked delay in eruption of permanent te... |
ORPHA:97360 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Atria... |
ORPHA:79345 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hypoplasi... |
OMIM:620157 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty... |
ORPHA:2635 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Conductive hearing impairment, Dystonia |
OMIM:618497 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anotia, Narrow chest, Thickene... |
ORPHA:3338 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Epicanthus, Sacral dimple, Micrognathia, Short neck, Underdeveloped nasal alae, Patent ductus art... |
ORPHA:1516 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, Prominent nose, Hypoplasia of the iris, Hypoplasia of the brainstem, Pachygyria, Hy... |
OMIM:251300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Treacher Collins Syndrome 4 |
|
Micrognathia, Microcephaly, Lower eyelid coloboma, Choanal stenosis, Conductive hearing impairmen... |
OMIM:618939 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Truncus arteriosus, Highly arched eyebrow, Underdeveloped nasal alae |
OMIM:611867 |
D-Lactic Aciduria With Gout |
|
Aniridia, Inguinal hernia, Downslanted palpebral fissures, Microcephaly |
OMIM:245450 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... |
OMIM:618914 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Cerebral calcification, Abnormal nasolacrimal system morphology, Corne... |
ORPHA:2396 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Dolichocephaly, Coxa valga, Enlargement of the costochondr... |
OMIM:609052 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of t... |
ORPHA:990 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Ocular anterior segment dysgene... |
OMIM:612582 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C... |
OMIM:615546 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Brachycepha... |
ORPHA:1236 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Inguinal hernia, Prominent superficia... |
OMIM:269880 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... |
ORPHA:2008 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement of thumb, Thin ... |
OMIM:620370 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares |
ORPHA:2015 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Inguinal hernia, Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Carious teeth, Wide nasal bridge, Protruding ear... |
ORPHA:3253 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Abnormal clavicle morphology, Abnormal dental enamel morphology, Aplastic clavicl... |
ORPHA:85199 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Atrial septal defect, Epicanthus, Transient ischemic attack, De... |
OMIM:600268 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Patent ductus arteriosu... |
OMIM:227646 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg... |
ORPHA:742 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Corneal opacity, Aganglionic megacolon, Anteverte... |
ORPHA:2059 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Supernumerary Nostril |
|
Abnormality of ethmoid sinus, Facial cleft |
ORPHA:141096 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Short neck, Hydrocephalus, Wide na... |
OMIM:614083 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge |
ORPHA:710 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Linear hyperpigmentation, Ventricular septal defect, Sclerocornea, Cortical... |
OMIM:613001 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypopigmen... |
ORPHA:1784 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:619473 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preauricular skin tag, Overfolded helix, ... |
ORPHA:79113 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypoplasia of the zygomatic... |
ORPHA:83 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Short Syndrome |
|
Inguinal hernia, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Posterior embry... |
ORPHA:3163 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hearing impairment, Broad nasal ti... |
OMIM:619736 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Short nose, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Cutan... |
OMIM:601390 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Arachnodactyly, Depressed nasal bridge, Micrognathia, Microcephaly, Cup... |
OMIM:249310 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E... |
OMIM:615873 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes... |
OMIM:217100 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Short palm, Clinod... |
ORPHA:264200 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Fraser Syndrome |
|
Anophthalmia, Cleft ala nasi, Malformed lacrimal duct, Vertebral segmentation defect, Conductive ... |
ORPHA:2052 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Long toe,... |
ORPHA:163979 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Cataract, Hypermelanoti... |
ORPHA:90321 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... |
OMIM:617877 |
Distal Triplication 15Q |
|
Telecanthus, Dandy-Walker malformation, Arachnodactyly, Corneal dystrophy, Micrognathia, Kyphosis... |
ORPHA:314588 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Bifid nose, Short palpebral fissure |
OMIM:619452 |
Frontonasal Dysplasia 3 |
|
Facial cleft, Cleft palate |
OMIM:613456 |
Marfan Syndrome |
|
Limited elbow movement, Micrognathia, Increased axial length of the globe, Pectus carinatum, Hypo... |
ORPHA:558 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypopla... |
OMIM:616367 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Hypermelanotic macule, Delayed eruption of primary teeth, Ky... |
ORPHA:90322 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Micrognathia, Short neck, Patchy atrophy of the retinal pigment epithelium, Rod... |
ORPHA:436245 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Telecanthus, Short metacarpal, Broad long bones, Micromelia, Microcephaly, Hypoplasia of the iris... |
ORPHA:1422 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Ectropion, Abnormal pinna morphology, Antever... |
ORPHA:1231 |
Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal peripheral myelination, Basal ganglia calcification, Ivory epiphy... |
OMIM:133540 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Forearm undergrowth |
OMIM:602200 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:611134 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Developmental glaucoma, Telecanthus, Aniridia |
OMIM:206750 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Abnormal retinal va... |
ORPHA:791 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Cl... |
OMIM:181270 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Ap... |
OMIM:617247 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Hypothyroid... |
ORPHA:3258 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Acrania, Kyphoscoliosis, Micrognathia, Protruding ear, Astigmatism, Holo... |
OMIM:618820 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Feingold Syndrome 1 |
|
Micrognathia, Anteverted nares, Short thumb, Patent ductus arteriosus, Short toe, 2-3 toe syndact... |
OMIM:164280 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... |
ORPHA:1248 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Atrial septal defect... |
OMIM:311900 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Aase-Smith Syndrome |
|
Abnormal pinna morphology, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equ... |
ORPHA:916 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary... |
ORPHA:2414 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Single transverse palmar crease, Micr... |
ORPHA:96334 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Abnormal external nose morphology, Hypoplasia of the zygomatic bone, H... |
ORPHA:556955 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Choanal stenosis, Shallow ... |
ORPHA:798 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Underdeveloped nasal alae, Microphthalmia, Ankyloblepharon, Cranium bifidu... |
OMIM:229400 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Aplasia/Hypoplasia of ... |
ORPHA:65 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n... |
OMIM:113620 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Short nose, A... |
ORPHA:1914 |
Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the iris, Otitis med... |
OMIM:223370 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Vertigo, Hydrocephalus, Hypoplasi... |
OMIM:614195 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Microcephaly, Partial agenesis of t... |
OMIM:617478 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Abnormal finger morphology, Abnormality of frontal sinus, Atrial septal defect, Wri... |
ORPHA:436003 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Sensorineural hearing impairme... |
ORPHA:2790 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Ectopia lentis |
ORPHA:833 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ventricular septal defect, Lumbar hyperlordosis, Depressed nasal bridge, Ectopia lentis... |
OMIM:277600 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Patent foramen ovale, P... |
OMIM:600001 |
Stevenson-Carey Syndrome |
|
Prominent nasal tip, Posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Colob... |
OMIM:611961 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Delayed eruption of teeth, Bowing of the long bones, Micr... |
ORPHA:2484 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia... |
OMIM:617895 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal cranial n... |
ORPHA:2345 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Synophrys, White hair, Premature graying of hair, Heterochromia iridis, Sp... |
ORPHA:894 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi... |
ORPHA:40366 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Wide nose, Overriding aorta, Bicuspid aor... |
ORPHA:477817 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Microtia, third degree, Anophthalmia, Spina bifida, Micro... |
ORPHA:3412 |
De Barsy Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent veins on trunk, Coxa vara, Pa... |
ORPHA:2962 |
Down Syndrome |
|
Single transverse palmar crease, Short palm, Atrial septal defect, Hypoplastic iliac wing, Conduc... |
OMIM:190685 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... |
ORPHA:52429 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Brachydactyly, Generalized hyperpigmentation, Ble... |
ORPHA:3339 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal ... |
ORPHA:1335 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip |
ORPHA:2776 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Abnormal intervertebral disk m... |
ORPHA:887 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the... |
OMIM:188400 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Cataract, Ventricular septal defect, Abnormal chorioretinal morphol... |
ORPHA:912 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Synophrys, Premature graying of hair, Supernumerary vertebrae, Heterochrom... |
OMIM:193500 |
Lateral Meningocele Syndrome |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, I... |
ORPHA:2789 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:616726 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Peripheral axonal neuropathy, Microcephaly, Cerebral atrophy, Pigmentary retinopathy, Hammertoe, ... |
OMIM:619090 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, High palate, Talipes equinova... |
ORPHA:85279 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra... |
OMIM:108720 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot |
OMIM:615542 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short t... |
ORPHA:391641 |
Microhydranencephaly |
|
Prominent nasal bridge, Microcephaly, Pachygyria, Hypoplasia of the brainstem, Talipes equinovaru... |
OMIM:605013 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... |
ORPHA:1040 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic... |
ORPHA:2526 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Non-Distal Duplication 10Q |
|
Short nose, Aplasia/Hypoplasia affecting the eye, Depressed nasal bridge, Convex nasal ridge |
ORPHA:1695 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1450 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Full cheeks, Microtia, Thic... |
ORPHA:261295 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Cerebral calcification, Micrognathia, Abnorm... |
ORPHA:2710 |
Holoprosencephaly 1 |
|
Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Proboscis, Agenesis of corpus callosu... |
OMIM:236100 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Pulmonic steno... |
OMIM:608149 |
Radial-Renal Syndrome |
|
External ear malformation, Absent radius, Absent thumb |
OMIM:179280 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc... |
ORPHA:397973 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Thoracic scoliosis, Single transverse palmar crease, Bul... |
OMIM:216550 |
17Q21.31 Microduplication Syndrome |
|
Short nose, Anteverted nares |
ORPHA:217340 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Death in childhood, Ulnar devi... |
OMIM:214100 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Myelomeningocele, Hydroce... |
OMIM:182940 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Underdeveloped nasal alae, Optic atrophy, Simplified gyral pattern, Wide n... |
ORPHA:411493 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Ab... |
ORPHA:2556 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus |
OMIM:312190 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... |
ORPHA:2662 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th... |
ORPHA:949 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Posterior embryotoxon, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal... |
ORPHA:782 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Cataract, Rhizomelia, Optic nerve hypoplasia, Anteverted nares, M... |
OMIM:222765 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology |
OMIM:214300 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent radiu... |
OMIM:227645 |
Fraser Syndrome 3 |
|
Wide nose, Convex nasal ridge, Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stil... |
OMIM:617667 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar cr... |
OMIM:108145 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Inguinal hernia, Telecanthus, Shoulder flexion contracture, Kyphoscoliosis, Micrognat... |
OMIM:277720 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... |
OMIM:614815 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Agenesis of cerebellar ve... |
OMIM:615287 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Rieger anomaly, Vertebrobasilar dolichoectasia, Tapere... |
ORPHA:521445 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defec... |
OMIM:618205 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... |
OMIM:618223 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Synophrys, Clinodactyly of the 5th finger, Anteverted nares, Highly arche... |
OMIM:619293 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, EEG with generalized epileptiform discharges |
OMIM:617976 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macrotia |
ORPHA:93945 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Overtubulated long bones, Atrial septal defect, Neonatal death,... |
OMIM:275210 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, A... |
ORPHA:2141 |
Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Triple A Syndrome |
|
Generalized hyperpigmentation, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Pal... |
ORPHA:869 |
Seckel Syndrome 4 |
|
11 pairs of ribs, Microcephaly, Underdeveloped nasal alae, Low-set ears, Steep acetabular roof, R... |
OMIM:613676 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to gr... |
OMIM:609053 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Crouzon Syndrome |
|
Choanal atresia, Hearing impairment, Convex nasal ridge, Hypoplasia of the maxilla, Abnormal sacr... |
ORPHA:207 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Sandal gap, Highly arched e... |
OMIM:300887 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Pr... |
OMIM:180849 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of thumb, Symphalangis... |
ORPHA:628 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Pectus carinatum, Atrial septal defect, Thickened helices, Patent foramen ovale, Dand... |
OMIM:617506 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda... |
OMIM:248340 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Patent ductus arte... |
OMIM:192350 |
Ring Chromosome 14 Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Short neck, Almond-shaped palpebral fissure... |
OMIM:616606 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Proximal placement of thumb, Short neck, Abnormal form of the vertebr... |
ORPHA:818 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Micrognathia, Microcephaly, Patent duct... |
ORPHA:2306 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Underdeveloped nasal alae, Sensorineu... |
OMIM:193510 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of the 3rd finger, Conjunctiv... |
OMIM:149730 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Miscarriage, Microcephaly, Wrist swelling, Retinal pigmen... |
ORPHA:448237 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Clinodactyly of the 5th finger, Iris coloboma, Highly arched eyebrow, Short thumb, P... |
ORPHA:2712 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Corneal dystrophy, Single transverse palmar crease, Cardiomega... |
OMIM:253250 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Yuan-Harel-Lupski Syndrome |
|
Epicanthus, Wide nose, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Decreased ne... |
OMIM:616652 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Dilated c... |
OMIM:212112 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... |
OMIM:164210 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Limited elbow movement, Cleft upper lip, Hip dislocation, Cleft pal... |
OMIM:265050 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... |
ORPHA:1435 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec... |
OMIM:122470 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microcephaly, Abnormal ... |
OMIM:600901 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Cerebellar vermis hypoplasia, Fundus atrophy, Absent fo... |
OMIM:204100 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Hydranencephaly, Ventricular septal defect, Cerebral calcification, Spina bifid... |
ORPHA:1393 |
Trisomy 8P |
|
Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, S... |
ORPHA:264450 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Micrognathia, Brushfield ... |
OMIM:214110 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Chorioretinal dysplasia, Chorioretinal lacunae, Simplified gyral pattern, ... |
OMIM:152950 |
Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Micrognat... |
ORPHA:776 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Full ... |
ORPHA:1340 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Hypoplasia of the iris, Agenesis of corpus callosum, Prominent crus... |
OMIM:619194 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Long nose, Microcornea, Persistent pupillary membrane, H... |
OMIM:257850 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Nasal polyposis, Situs inversus totalis, Hyd... |
ORPHA:244 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... |
ORPHA:3472 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Oliver-Mcfarlane Syndrome |
|
Peripheral axonal neuropathy, Central heterochromia, Hypogonadotropic hypogonadism, Decreased res... |
OMIM:275400 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe... |
OMIM:263750 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microcephaly, Abnormal ... |
OMIM:227650 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Epicanthus, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal ba... |
ORPHA:1919 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Synophrys, Metaphyseal widening, Pectus carinatum, N... |
OMIM:615777 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Microcornea, Prominent fingert... |
OMIM:619539 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment |
OMIM:615706 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Corneal opacity, Death in childhood, Short nose |
OMIM:618961 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Right atrial enlargement, Pulmonary arterial hypertension, Pulmonic stenosis, Um... |
OMIM:616028 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... |
ORPHA:891 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the sense of smell, Hypoplasia of the zygomatic... |
ORPHA:958 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, M... |
OMIM:610125 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Decreased response to growth hormone stimulation test, Hypoplasia of the maxilla,... |
OMIM:180500 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal pha... |
OMIM:300863 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment |
OMIM:132450 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Short nec... |
ORPHA:2879 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Stapes ankylosis, Delayed eruption of teeth, Papilledema, Broad hallux, Ab... |
OMIM:614188 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Craniosynostosis, Split hand, Lobar holoprosenc... |
ORPHA:2117 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia, Streak ovary |
OMIM:194072 |
Auriculoosteodysplasia |
|
Attached earlobe, Abnormal clavicle morphology, Elbow dislocation, Aplasia/Hypoplasia of the earl... |
ORPHA:114 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Corpus callosum atrophy, Retinal pigment epithel... |
OMIM:619389 |
Fraser Syndrome 2 |
|
Wide nose, Short neck, Underdeveloped nasal alae, Short thorax, Cutaneous syndactyly, Hypoplasia ... |
OMIM:617666 |
Frontorhiny |
|
Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Iris coloboma, Low-set, post... |
ORPHA:391474 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Abnormal cervical curvature, Epiphyseal stippling o... |
ORPHA:56305 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Reduced cerebral white matter volume, Palmoplantar hyperkeratosis, Chorioretina... |
OMIM:280000 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Posteriorly rotated ears, Abnormal retinal morpholog... |
ORPHA:96176 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
ORPHA:2213 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cerebral calcification, Micrognathia, Large iliac wing, Conductive hearing impairment, Spina bifi... |
ORPHA:2780 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Triphalangeal thumb, Clinodactyly... |
ORPHA:79500 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Intracranial hemorrhage, Coloboma, Hypoplasia of the brainstem, Dan... |
OMIM:614424 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... |
ORPHA:1120 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Flynn-Aird Syndrome |
|
Cataract, Cerebral calcification, Carious teeth, Kyphosis, Abnormality of the thyroid gland, Prim... |
ORPHA:2047 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Micrognathia, Cardiomegaly, Abnorma... |
ORPHA:904 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Cupped ear, Hypoplas... |
OMIM:614846 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Pigmentary retinopathy, Bilateral senso... |
OMIM:264470 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy |
OMIM:614464 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Monosomy 18Q |
|
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de... |
ORPHA:1600 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Conductive hearing impairment, Malar f... |
ORPHA:93262 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Atrial septal defect, Clinoda... |
OMIM:136140 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencephaly, Microtia, Hypo... |
OMIM:618500 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Micrognathia, Short ... |
ORPHA:1703 |
Ablepharon-Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Aplastic z... |
OMIM:200110 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Absen... |
OMIM:236680 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short neck, Conductive hearing impairment, Vertebral fusion,... |
OMIM:130720 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Synophrys, Patent foramen ... |
ORPHA:163956 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Patent duc... |
ORPHA:17 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly |
ORPHA:63862 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Low-set ears |
OMIM:616910 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Chorioretinal coloboma, Iris coloboma, Spina bifida, Hyperlor... |
OMIM:234100 |
Gms Syndrome |
|
Epicanthus, Rieger anomaly, Depressed nasal bridge, Microcephaly, Low-set ears, Downslanted palpe... |
ORPHA:2090 |
Marfan Syndrome |
|
Bicuspid aortic valve, Micrognathia, Equinus calcaneus, Increased axial length of the globe, Pect... |
OMIM:154700 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Inguinal hernia, Short humerus, Aplasia of the 5th metac... |
OMIM:181450 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hallux valgus, Epicanthus, Dilation of Virchow-Robin spaces, S... |
ORPHA:261311 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Bilateral single transverse palmar crea... |
ORPHA:2471 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose, Midface retrusion, Protruding ear |
OMIM:618737 |
Ramon Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
ORPHA:3019 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Right aortic a... |
OMIM:617616 |
Maternal Phenylketonuria |
|
Epicanthus, Ventricular septal defect, Anteverted nares, Micrognathia, Bifid distal phalanx of th... |
ORPHA:2209 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... |
ORPHA:163966 |
Wolfram Syndrome 1 |
|
Cataract, Testicular atrophy, Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impair... |
OMIM:222300 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypoplasia of the zygomatic bone |
OMIM:614800 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Synophrys, Abnormal tibia morphology, Coloboma, Vertebral segmentation ... |
ORPHA:251014 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Fundus atrophy, Optic disc drusen, Pigme... |
OMIM:204000 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short metacarpal, Retinal dystrophy, Micromelia, Microcephaly, Underdeveloped na... |
OMIM:180870 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Abnormality of skin pigmentation, Chorio... |
ORPHA:50 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, C... |
ORPHA:217093 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Atrial septal defect, C... |
ORPHA:2044 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormone stimulati... |
OMIM:616007 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia |
ORPHA:93950 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Short nose, Iris coloboma |
ORPHA:2143 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Micrognathia, Pectus excavatum, Kyphosis, Microcephaly, Underdeveloped... |
ORPHA:77300 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Patent ductus arteriosus, Hypopla... |
OMIM:602482 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia |
ORPHA:2246 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac w... |
ORPHA:2637 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Microgna... |
OMIM:241800 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Thick nasal alae, Hypothyro... |
ORPHA:96169 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Epicanthus, Telecanthus, Wide nose, Hearing impairment, Under... |
ORPHA:1252 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Synophrys, Abnormal form of the vertebra... |
ORPHA:581 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Periventricular cysts, Abnormal form of the verteb... |
OMIM:194190 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ... |
OMIM:166300 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hip dis... |
ORPHA:370968 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Pectus excavatum, Sensorineura... |
OMIM:611584 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Small earlobe, Low-set, post... |
ORPHA:2886 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Thick eyebrow, Cataract, Corneal opacity, Abnormality of retinal pigmentati... |
ORPHA:585 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Highly arched eyebrow, Tapered f... |
ORPHA:401923 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Anteverted nares, Single transverse palmar crease, Prominent nasal... |
ORPHA:2332 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Epicanthus, Microcephaly, Prominent nose, Wide anterior fontanel, P... |
OMIM:614886 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Choanal atresia, Short neck, Pectus excavat... |
ORPHA:52055 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Und... |
OMIM:272440 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... |
OMIM:215045 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Posteriorly rotated ears, ... |
ORPHA:2211 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Choanal stenos... |
OMIM:620186 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Coloboma, Clinodactyly of th... |
ORPHA:2399 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... |
OMIM:253800 |
Roifman Syndrome |
|
Single transverse palmar crease, Irregular vertebral endplates, Clinodactyly of the 5th finger, S... |
OMIM:616651 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, C... |
ORPHA:217085 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Lateral c... |
ORPHA:1801 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Hypoplasia of the pons, Sensorin... |
ORPHA:1493 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Optic atr... |
OMIM:615636 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Epicanthus, Cataract, Short metacarpal, Sclerocornea, Micrognathia, Short neck, Under... |
OMIM:614230 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... |
ORPHA:1149 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Cerebral atrophy |
OMIM:610951 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... |
OMIM:228520 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:300946 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/H... |
ORPHA:3082 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Anteverted nares, Spar... |
OMIM:613026 |
8Q21.11 Microdeletion Syndrome |
|
Sclerocornea, Micrognathia, Short neck, Iris hypopigmentation, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:284160 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Sclerocornea, Adre... |
OMIM:607932 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill... |
OMIM:619142 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment |
ORPHA:1522 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... |
ORPHA:1166 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Ventricular septal defect, Bilateral single transverse palmar creases, Depressed nasa... |
ORPHA:1913 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Intracranial hemorrhage, Shallow orbits, Conductive hearing impairment, Absent eyeb... |
ORPHA:740 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Nasolacrimal duct obstruction, Eyeli... |
OMIM:248450 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Narrow nasal ridge, Micrognathia, Insulin-... |
OMIM:608612 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Short neck, Hypoplasia of the brainstem, Spina bifida occulta, Wrist flexi... |
OMIM:193700 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Decreased response to growth ho... |
OMIM:147250 |
Cleft Velum |
|
Recurrent otitis media, Conductive hearing impairment |
ORPHA:99772 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib ... |
ORPHA:1988 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Inguinal hernia, Finger syndac... |
ORPHA:2311 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Hippocampal atrophy, Clinodactyly of the 5th fi... |
ORPHA:353298 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:601927 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Harel-Yoon Syndrome |
|
Short nose, Optic atrophy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Telecanthus, Posteriorly rotated ears, Ulnar deviation of the hand, Micr... |
OMIM:263210 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Microcephaly, Prominent nose, Bulbous nose, Wide nasal bridge, Short clavicles... |
OMIM:606220 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly |
OMIM:616589 |
Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Abnormal finger flexion crease, Mi... |
OMIM:210600 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Adrenal insufficiency, Scoliosis, Agenesis of corpus callosum, Pt... |
OMIM:618238 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Encephalomalacia, Short clavicles, Abnormal cerebral v... |
ORPHA:60015 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome... |
ORPHA:1299 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... |
OMIM:218000 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor... |
OMIM:256050 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation... |
ORPHA:2741 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Inguinal hernia, Short metacarpal, Ventricular septal defect, Micr... |
ORPHA:166035 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short nose, Optic atrophy |
ORPHA:1495 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Brushfield spots, Short nose, Aplasia/Hypoplasia affecting the... |
ORPHA:1895 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... |
OMIM:612863 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Depressed nasal bridge, Anteverted nares, Retinal pigment epithelial mottling, Bulbous ... |
OMIM:614105 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... |
ORPHA:580 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment |
ORPHA:1006 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Hydrocephalus, Abnormal mandib... |
ORPHA:955 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyp... |
ORPHA:3085 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Iniencephaly |
|
Omphalocele, Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomen... |
ORPHA:63259 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia |
ORPHA:921 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
Aicardi-Goutières Syndrome |
|
Ptosis, Diabetes mellitus, Cerebral calcification, Cardiomegaly, Microcephaly, Developmental glau... |
ORPHA:51 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Lowry-Maclean Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Atrioventricular canal ... |
ORPHA:2409 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Abnor... |
OMIM:603387 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the... |
ORPHA:313855 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Goldberg-Shprintzen Syndrome |
|
Short neck, Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Clinodactyly of th... |
OMIM:609460 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Alazami-Yuan Syndrome |
|
Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Microcephaly, Prominent nos... |
OMIM:617126 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Ventricular septal defect, Dextrocardia, Prominent nasal brid... |
ORPHA:96097 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... |
OMIM:100300 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Hyp... |
ORPHA:563612 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1832 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, ... |
OMIM:309800 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Microcephaly, Abnorma... |
ORPHA:1926 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Ankyloblepharon, Microcornea, Abnormal shoulder morphology, Long th... |
ORPHA:568 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly, Primary adrenal insufficiency |
ORPHA:1048 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Anotia, Agenesis of corpus call... |
ORPHA:261112 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Broad palm, Retrognathia, Thic... |
OMIM:300280 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Protru... |
ORPHA:1147 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Carey-Fineman-Ziter Syndrome 2 |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Protruding e... |
OMIM:619941 |
Frontonasal Dysplasia With Alar Clefts |
|
Telecanthus, Cleft ala nasi, Underdeveloped nasal alae |
OMIM:203000 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Wide nose, Ventricular septal defect, Hearing impairment, Hypoplasia of the maxill... |
OMIM:614261 |
Keutel Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... |
ORPHA:85202 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Carious teeth, Micrognathi... |
OMIM:618363 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Telecanthus, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Depressed nasal ... |
OMIM:617102 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Hypoplasia of the maxilla, Long palm |
OMIM:300676 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, ... |
ORPHA:897 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand... |
ORPHA:2166 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Mic... |
OMIM:619322 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, Clinodacty... |
ORPHA:570 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media |
OMIM:618063 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Toe syndactyly, Retinal dystrophy, Mitral atresia, Pulmonary artery stenosis, Hypopl... |
ORPHA:140952 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Bell-s... |
OMIM:614592 |
Oculodentodigital Dysplasia |
|
Basal ganglia calcification, Uveitis, Microcornea, Joint contracture of the 5th finger, Atrial se... |
OMIM:164200 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Peho-Like Syndrome |
|
Short nose, Optic atrophy |
OMIM:617507 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalm... |
ORPHA:2717 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Coloboma, Vertebral segmentation defect, Shallow orbits, Atrial septal def... |
ORPHA:453499 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dis... |
ORPHA:2557 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Facial palsy, Choanal atresia, Microcephaly, Absent eyelashes, Carious teeth, Pre... |
ORPHA:2316 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, Ventricular septal defect, Kyphoscoliosis, Mic... |
ORPHA:447980 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation |
ORPHA:83473 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Cataract, Flexion contracture of finger, Bone spicul... |
OMIM:609033 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment |
ORPHA:1997 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, Atrioventricular canal de... |
ORPHA:251071 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... |
OMIM:607361 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Chorioretinal lacunae, Partial agenesi... |
OMIM:304050 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Inguinal hernia |
ORPHA:1296 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Encephalocele,... |
OMIM:616300 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi... |
OMIM:614524 |
Non-Functioning Paraganglioma |
|
Tremor, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus |
ORPHA:94080 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, Atrial se... |
OMIM:244450 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Choanal stenosis, Low-set ears, Short nose, Maxillozygomatic hypoplasia, Midfac... |
ORPHA:1790 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening, Pectus cari... |
OMIM:182212 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
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Hallux valgus, Micrognathia, Long hallux, High palate, Clinodactyly, Broad thumb, Hyperplasia of ... |
OMIM:620194 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Narp Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Retinal arteriolar tortuosity, Re... |
ORPHA:644 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Stroke-li... |
ORPHA:137675 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Sandal gap, Ventricular septal defect, Microcephaly, Dilated... |
ORPHA:2515 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Hypoglossia-Hypodactyly Syndrome |
|
Hypoplasia of the zygomatic bone, Wide nasal bridge, Micrognathia |
ORPHA:989 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... |
OMIM:118100 |
Cockayne Syndrome A |
|
Mandibular prognathia, Abnormal peripheral myelination, Prominent nose, Basal ganglia calcificati... |
OMIM:216400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Synophrys, Aplasia of the distal phalanx of the 5th finger, Prominence of the zygomatic bone, Sma... |
ORPHA:364577 |
Trisomy 18P |
|
Telecanthus, Abnormal pinna morphology, Facial palsy, Highly arched eyebrow, Micrognathia, Microc... |
ORPHA:1715 |
Zechi-Ceide Syndrome |
|
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... |
ORPHA:217017 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small abnormally form... |
OMIM:187600 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Epistaxis, Hearing impairment, Recurrent pharyngitis, Vertigo, ... |
ORPHA:397 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Epicanthus, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Retina... |
OMIM:607143 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Kabuki Syndrome 2 |
|
Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana... |
OMIM:300867 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft pal... |
OMIM:604841 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnormal metacarpal mo... |
ORPHA:166100 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... |
OMIM:300232 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Perlman Syndrome |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Pancreatic islet-cell hyperplasia, Inter... |
OMIM:267000 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... |
OMIM:305400 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Umbilical hernia, Pulmonic stenosis |
OMIM:616977 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c... |
OMIM:608154 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Microcornea, Microphthalmia, Short nose |
OMIM:602342 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Proximal placement o... |
ORPHA:1488 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... |
ORPHA:763 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Short nose, Iris coloboma |
ORPHA:1716 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, He... |
ORPHA:195 |
Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft... |
OMIM:614078 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Hyperplasia... |
ORPHA:313892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Facial palsy, Hyperlordosis, Microcephaly, Hip dislocation, Pigment... |
OMIM:613156 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Microphthalmia, Short nos... |
ORPHA:163649 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Protruding ear, Hyperhidrosis, Coloboma, Vertebral segmentation defect, Ab... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Protruding ear, Hyperhidrosis, Coloboma, Vertebral segmentation defect, Ab... |
ORPHA:352665 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Single transverse pal... |
OMIM:619720 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Anteverted nares, Dep... |
ORPHA:1327 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, Dolichocephaly, Cl... |
ORPHA:2475 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears |
OMIM:618672 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th... |
OMIM:618454 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Upper eyelid entropion, Postaxial polydact... |
ORPHA:457284 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Sensorineural hearing impairment... |
ORPHA:773 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnor... |
ORPHA:1856 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Cockayne Syndrome |
|
Cerebral calcification, Basal ganglia calcification, Retinal arteriolar constriction, Lentiglobus... |
ORPHA:191 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Micrognathia, Short neck, Microcephaly, Bulbous nose, Underdeveloped nas... |
OMIM:616549 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Pectus carinatum, Right ventricula... |
OMIM:619472 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, Anteverted nares, Highly ... |
OMIM:619135 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology, Upslanted... |
ORPHA:276422 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Abnormal helix morphology, ... |
ORPHA:1259 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitat... |
OMIM:304150 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Conductive hearing impairment, Abnormal digit morphology, Syndactyly, F... |
ORPHA:2363 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Downt... |
OMIM:615761 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Supernumerary tooth, Patent ductus art... |
OMIM:617088 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Congestive heart fail... |
OMIM:601808 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Orofaciodigital Syndrome Type 1 |
|
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Underdeveloped nasal alae, Wide... |
ORPHA:2750 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Short nose |
ORPHA:496790 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Low-se... |
OMIM:200980 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Hypop... |
OMIM:610828 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cortical dysplasia, Porencephalic cyst, Microcornea, Hypoplasia of the iris, Hypo... |
OMIM:175780 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Depressed nasal ridge, Atrial septal defect, Thickened helices,... |
OMIM:607872 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Achondrogenesis Type 1B |
|
Frontal bossing, Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Sho... |
ORPHA:93298 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Microcephaly, Abnormal eyelash morphology,... |
ORPHA:2518 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty... |
ORPHA:794 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Optic atrophy, Increased circulating androgen concentration, Pi... |
ORPHA:228346 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Choanal stenosis, Micrognathia |
OMIM:241310 |
Alagille Syndrome 1 |
|
Long nose, Hemivertebrae, Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnorma... |
OMIM:118450 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H... |
OMIM:612651 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Short neck, Pachygyria, Dysplastic corpus ca... |
ORPHA:2328 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Coloboma, Clinodactyly of the... |
OMIM:616975 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor... |
OMIM:213980 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Craniosynostosis, Parietal foramina, Brachycephaly... |
OMIM:613451 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Pachygyria, Agenesis of corp... |
OMIM:614866 |
Ogden Syndrome |
|
Microretrognathia, Inguinal hernia, Ventricular septal defect, Broad hallux, Underdeveloped nasal... |
ORPHA:276432 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Progressive leukoencephalopathy, Dilated cardiomyopathy, Optic atrophy, Leukoencephalopathy, Pigm... |
OMIM:252011 |
Warburg Micro Syndrome 2 |
|
Cataract, Prominent nasal bridge, Optic atrophy, Developmental cataract, Microcornea, Microphthal... |
OMIM:614225 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, Hippocampal atrophy, Patent foramen ovale, Hypothyroidis... |
OMIM:619325 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital bil... |
ORPHA:1692 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cerebral calcification, Cardiomegaly, Microcephaly, Hydrocep... |
ORPHA:858 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment |
ORPHA:3238 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment |
ORPHA:1861 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Conductive hearin... |
ORPHA:444077 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Bulbous nose, Upslanted palpebral fissure, Coloboma, Transpos... |
OMIM:616789 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Coloboma, Otitis... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Coloboma, Otitis... |
ORPHA:353277 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening |
ORPHA:93946 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop... |
ORPHA:521308 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... |
OMIM:608257 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Bilateral talipes equ... |
OMIM:618142 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip ver... |
OMIM:618950 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Ventricular septal defect, Congenital hip dislocation, Hearing impai... |
ORPHA:217346 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Short nose, Optic atrophy |
OMIM:615042 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal... |
ORPHA:2145 |
Phace Association |
|
Anomalous branches of internal carotid artery, Dandy-Walker malformation, Ventricular septal defe... |
OMIM:606519 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Otitis media, Atrial... |
ORPHA:353281 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:113650 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Underdeveloped nasal alae, Sensorineural ... |
ORPHA:423479 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... |
ORPHA:633 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Dep... |
ORPHA:52022 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Hip dysplasia, Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly |
OMIM:619025 |
Mandibuloacral Dysplasia |
|
Abnormally large globe, Micrognathia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypo... |
ORPHA:2457 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... |
ORPHA:66627 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, High... |
OMIM:618460 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Short nose, Blue irides |
OMIM:614613 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... |
ORPHA:93307 |
Zechi-Ceide Syndrome |
|
Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Underdeveloped nasal alae, Short metatarsal,... |
OMIM:612916 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Brachydactyly, Underdeveloped nasal alae, Avascular necrosis of the capital fem... |
OMIM:190351 |
Restrictive Dermopathy |
|
Micrognathia, Atrial septal defect, Aplasia/Hypoplasia involving the nose, Sparse eyebrow, Patent... |
ORPHA:1662 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose |
ORPHA:217385 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:617808 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Aganglionic megacolon, Promin... |
ORPHA:3440 |
Rapadilino Syndrome |
|
Slender nose, Sparse eyelashes, Absent thumb, Sparse eyebrow, Aplasia/Hypoplasia of the patella, ... |
OMIM:266280 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:215500 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad hallux, Thoracolumbar scol... |
OMIM:618019 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
2Q37 Microdeletion Syndrome |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad colu... |
ORPHA:1001 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus,... |
OMIM:619769 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Conductive hearing impairment, Patent foramen ovale, Antev... |
OMIM:157800 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Bulbous nose, Wide nasal bridge, Astigmatism, Retinal coloboma, Microphthalmia, Short nose |
OMIM:618571 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Agenesis of corpus ca... |
OMIM:264480 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Cataract, Single naris, An... |
ORPHA:2250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, ... |
OMIM:236670 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... |
OMIM:119580 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place... |
OMIM:613406 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Craniofrontonasal Syndrome |
|
Short neck, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Wide nasal... |
OMIM:304110 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Telecanthus, Cleft ala nasi, Underdeveloped nasal alae, Wide nasal bridge, Convex nasal ridge |
ORPHA:2007 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ... |
ORPHA:178303 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Inguinal hernia, Arterial dissection, Atrial fibrillation, Arterial tortuos... |
ORPHA:284984 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Ventricular septal defect, Corneal dystrophy, Butterfly vert... |
ORPHA:52 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Cataract, Female hypogonadism, Decreased circulating parathyroid hormone leve... |
OMIM:240300 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Abn... |
OMIM:309900 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Achondroplasia |
|
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Conductive hearing impairment, ... |
OMIM:100800 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho... |
OMIM:615485 |
Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Inguinal hernia, Pulmonic stenosis |
OMIM:616737 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Single transverse palmar crease, Hypermelanotic macule, Mi... |
OMIM:613398 |
Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot |
OMIM:613630 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy, Ptosis |
ORPHA:2743 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A... |
ORPHA:1506 |
Grant Syndrome |
|
Frontal bossing, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Brachycephaly, ... |
ORPHA:2097 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Epicanthus, Underdeveloped nasal alae, Bulbous nose, Low hanging columella, Wide nasal bridge, Pr... |
OMIM:619493 |
Ververi-Brady Syndrome |
|
Wide nose, Microcephaly, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, Upslanted pal... |
OMIM:617982 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Cataract, Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormal c... |
ORPHA:2611 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Kyphosis, Axonal degenerat... |
ORPHA:88628 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... |
OMIM:139210 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... |
ORPHA:1507 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Hemivertebrae, Abnormal sternum morphology, Parietal bossing, Iris coloboma, Vertebr... |
OMIM:109400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Deep philt... |
ORPHA:404440 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Barrel-shaped chest, Broad long bones, Absent vertebral body ... |
OMIM:200610 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:210720 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypop... |
ORPHA:268261 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Synophr... |
ORPHA:488632 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Syndactyly, Cataract, Cerebellar vermis hypoplasia, Sclerocornea, Microcephaly... |
OMIM:619869 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Abnormal clavicle morphology, Hear... |
ORPHA:2801 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Decreased calvarial ossification, Plat... |
OMIM:259440 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Hearing impairment, Underdeveloped nasal alae, Depressed nasal ridge, Wi... |
ORPHA:2053 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... |
OMIM:607131 |
Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spina... |
ORPHA:636 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Meningeal calcification, Clinodactyly of the 5th finger, Sm... |
OMIM:154780 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Short philtrum, E... |
OMIM:601499 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,... |
OMIM:113300 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Codas Syndrome |
|
Cataract, Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose |
ORPHA:1458 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
Tetrasomy 9P |
|
Glue ear, Micrognathia, Short neck, Clinodactyly of the 5th finger, Pachygyria, Patent foramen ov... |
ORPHA:3310 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, Phalangeal d... |
OMIM:130070 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Protruding e... |
OMIM:618619 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Anteverted nares, Posteriorly rotated ears, Hypopla... |
ORPHA:228396 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Cerebral calcification, Short neck, Pectus carinatum, Conjunctivitis, Thoracic kyphosis, Atrial s... |
ORPHA:505248 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small placen... |
ORPHA:397590 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... |
OMIM:300534 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Thoracoabdominal Syndrome |
|
Omphalocele, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great art... |
OMIM:313850 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Underdeveloped antitragus, Hyp... |
ORPHA:2036 |
Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... |
OMIM:614222 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella |
OMIM:617752 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Choanal atresia, Micrognathia, Bilateral micropht... |
OMIM:154500 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Micrognathia, D... |
OMIM:613792 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Sclerocornea, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Metatarsus adductus, Hypoplasia of the maxilla, Thick lo... |
ORPHA:293939 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... |
ORPHA:2847 |
Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... |
OMIM:224300 |
Stromme Syndrome |
|
Cataract, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Micro... |
OMIM:243605 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Atresia of the external auditory... |
OMIM:123500 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Neonatal death, Short nose |
OMIM:610015 |
Mevalonic Aciduria |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Agenesis of cerebellar vermis, Kyphoscolio... |
OMIM:610377 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, T... |
OMIM:105650 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormal ethmoid bone morphology, Nasofro... |
ORPHA:101030 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... |
ORPHA:93271 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Shortening of all distal phala... |
OMIM:106995 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Conductive hearing impairment, Clinodactyly of the 5th finger, Hypothyroid... |
ORPHA:1606 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Inguinal hernia, Secundum atrial septal defect, Pat... |
OMIM:612541 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Anteverted nares |
OMIM:618506 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:604804 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment |
OMIM:601076 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Wide nasal bridge, Chorioretinal coloboma, Microphthalmia, Short nose, Iris col... |
OMIM:243310 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Microgna... |
ORPHA:2083 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Dental crowding, Sandal gap, Intestinal malrotation, Carious teeth, Downturned co... |
OMIM:617602 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Hypoplastic facial bones, Overtubulated long bones, Short clavicles, Convex na... |
OMIM:619793 |
Faundes-Banka Syndrome |
|
Epicanthus, Premature thelarche, Micrognathia, Underdeveloped nasal alae, Bulbous nose, Cupped ea... |
OMIM:619376 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... |
ORPHA:2588 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Optic nerve hypoplasia, Retinal dystrophy, Microcephaly, Hydrocephalus, Opt... |
OMIM:619321 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Recurrent otitis media, Low-set ears |
OMIM:608545 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Short nose |
OMIM:618437 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Turricephaly, Crumpled long bones, Bowing of the lo... |
ORPHA:2050 |
Leprosy |
|
Absent eyebrow, Autoamputation of digits, Epistaxis, Loss of eyelashes, Abnormality of the sevent... |
ORPHA:548 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... |
ORPHA:2673 |
Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism... |
ORPHA:63260 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology |
ORPHA:199302 |
Hyperreflexia |
|
Abnormality of retinal pigmentation, Microcephaly |
OMIM:145290 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Supernumerary tooth, Juvenile catar... |
ORPHA:1264 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Ectopia lentis... |
ORPHA:394 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, Cli... |
OMIM:618332 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... |
OMIM:181180 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Phocomeli... |
ORPHA:3103 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... |
ORPHA:364055 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Thoracolumbar scol... |
OMIM:616580 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Pigmentary retinopathy, Long... |
ORPHA:3363 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy |
OMIM:609016 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding, Arachnodactyl... |
OMIM:309520 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th finger, Clinodactyly of the 5th... |
OMIM:608670 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... |
OMIM:224400 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... |
OMIM:300707 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Micrognathia, Pectus carinatum, Keratoconus, Arachnodactyly, Hiatus he... |
OMIM:208050 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Cere... |
ORPHA:51608 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Hypohidrosis, Amelogenesis imperfecta |
OMIM:612783 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Protruding ear, Pectus carinatum, Hypoplasia of the brainstem, Agenesi... |
ORPHA:481152 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Monosomy 13Q34 |
|
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Cadds |
|
Short nose, Cataract |
ORPHA:369942 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal pha... |
OMIM:612938 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, T... |
ORPHA:59315 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Ventricular septal defect, Absent eyelashes, Hypoplasia of the maxilla, Patent ... |
OMIM:106260 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemiv... |
ORPHA:2759 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Myelomeningocele, Non-midline cleft lip, Orofacial cleft, ... |
ORPHA:1752 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Short nose |
OMIM:618828 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Depressed nasal bridge, Anteverted nares, Ocular albinism, Choroiderem... |
ORPHA:2719 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Chori... |
OMIM:157170 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse |
OMIM:619745 |
Cdags Syndrome |
|
Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, Short ribs,... |
OMIM:603116 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Prominent nose, Ectopia lentis, Sphero... |
OMIM:601552 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Neonatal death, Shor... |
OMIM:619859 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Optic atrophy |
OMIM:615419 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, Death in childhood, Clinodactyly o... |
OMIM:309500 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Spina bifida occulta, ... |
OMIM:135500 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short... |
ORPHA:582 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Smooth philtrum |
OMIM:602501 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Micromelia, Abnormal rib morphology, Decreased calva... |
ORPHA:2772 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Micrognathia, Pectus excavatum, Pigmentary retinopathy, Cereb... |
ORPHA:502423 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... |
ORPHA:3035 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment |
ORPHA:557003 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Pachygyria, Microcephaly |
OMIM:617613 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:203800 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Short nose |
OMIM:234050 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Synophrys, Pinea... |
ORPHA:529962 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Ventricular septal defe... |
OMIM:250410 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... |
ORPHA:744 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Congenital hip dislocation, Red hair, Mitral valve prolapse, Keratoglobu... |
OMIM:229200 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Telecanthus, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal brid... |
ORPHA:228390 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Microcornea, Abnormal pulmonary v... |
ORPHA:709 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Down-sloping shoulders, Narrow nasal ridge, Micrognathia, Coxa valga, Convex nasal ridge, Insulin... |
OMIM:248370 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped n... |
OMIM:300801 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, High pa... |
OMIM:224690 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the verteb... |
ORPHA:2462 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Chorioretinal coloboma |
ORPHA:163961 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Miscarriage, Rocker bottom foot, Abnormal cerebral... |
ORPHA:902 |
Mosaic Trisomy 8 |
|
Frontal bossing, Abnormal pinna morphology, Camptodactyly of finger, Corneal opacity, Micrognathi... |
ORPHA:96061 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Epicanthus, Cerebellar vermis hypoplasia, Retinal dystrophy, Anteverted n... |
OMIM:608629 |
Eem Syndrome |
|
Absent eyebrow, Finger syndactyly, Abnormality of retinal pigmentation, Carious teeth, Ectrodacty... |
ORPHA:1897 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Brachydactyly, Abnormality of retinal pigmentation, Microcephaly, Elbow dis... |
ORPHA:1824 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Numerous co... |
ORPHA:2481 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Epicanthus, Arachnodactyly, Micrognathia, Almond-shaped palpebral fissu... |
OMIM:300986 |
Xylt1-Cdg |
|
Coxa valga, Microcephaly, Synophrys, Flared metaphysis, Short long bone, Short femoral neck, Shor... |
ORPHA:370930 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Epicanthus, Telecanthus, Short palpebral fissure, Wide nasal ridge, Pro... |
ORPHA:251061 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Three M Syndrome 2 |
|
Frontal bossing, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax,... |
OMIM:612921 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at... |
ORPHA:1135 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Cerebral atrophy, Hyperhidrosis, Abnormal heart morphology, Pigmentary retinop... |
ORPHA:79264 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Microcephaly, ... |
OMIM:617883 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia |
ORPHA:66630 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Agnathia-Otocephaly Complex |
|
Conductive hearing impairment, Low-set ears, Synotia |
OMIM:202650 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Cardiomyopathy, Pigmenta... |
OMIM:520000 |
Renpenning Syndrome |
|
Cataract, Abnormal thumb morphology, Pectus excavatum, Sensorineural hearing impairment, Abnormal... |
ORPHA:3242 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Type II diabetes mellitus |
ORPHA:2579 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Death in childhood, Br... |
OMIM:613848 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Abnormal rib m... |
ORPHA:3068 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... |
OMIM:615866 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Short nose |
ORPHA:2547 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia, Anteverted nares, Underdeveloped nasal alae |
OMIM:612138 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Anhidrosis, Hypoplasia of the iris, Hypocalcification of dental enamel, Chronic otitis media, Ame... |
ORPHA:169090 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Conotruncal defect, Anotia, Microtia |
OMIM:243440 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Decreased response to growth hormone stimulation test, Absen... |
OMIM:603467 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Overfolded helix, Low-set ears |
OMIM:617412 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Panhypopituitarism, Depressed nasal r... |
ORPHA:672 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
Igg4-Related Aortitis |
|
Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta... |
ORPHA:449400 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose |
ORPHA:1514 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Pulsatile tinnitus |
OMIM:168000 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia, Short clavicles |
OMIM:168550 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Taper... |
OMIM:618825 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Underdeveloped nasal alae, Synophrys, Downslan... |
ORPHA:2025 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, Pectus carinatum, Small earlobe, Caudal appendage, Syndactyly, H... |
OMIM:272950 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hallux, Tapered fing... |
OMIM:608156 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:135100 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Large placenta, Pulmonic stenosis, Tetralogy of ... |
OMIM:222470 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Hyperpigmentation of the skin, Mic... |
OMIM:231550 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Increased density of lo... |
OMIM:305620 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Bulbous nose, Bilateral microphthalmos, Wide nasal bridge, Ocular anterio... |
ORPHA:369891 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
High palate, Prominence of the premaxilla, Arachnodactyly, Micrognathia |
OMIM:614437 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Underdeveloped nasal alae, Kyphosis, Sensorineural hearing impairment, Synophrys, Bif... |
OMIM:616455 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Congenit... |
ORPHA:3455 |
Simosa Craniofacial Syndrome |
|
Inguinal hernia, Telecanthus, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched ... |
OMIM:182150 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Abnormal circulating calc... |
ORPHA:2196 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... |
ORPHA:2754 |
Alg9-Cdg |
|
Micrognathia, Short neck, Large fleshy ears, Right ventricular dilatation, Abnormal left ventricu... |
ORPHA:79328 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Short palm, Hypopigmentation of the skin, ... |
OMIM:176270 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Telecanthus, Prominent nasal bridge, Microcephaly, Prominent nose, Underdeveloped nasal alae, Syn... |
OMIM:611091 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Protruding ear, Atrial septal d... |
OMIM:613458 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy,... |
OMIM:256000 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Prominent superficial veins, Posteriorly rotated ears, Cataract, Narrow nasal ri... |
OMIM:614438 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ... |
ORPHA:75508 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Depressed nasal bridge, Optic atrophy, Short nose |
OMIM:619833 |
Perlman Syndrome |
|
Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:2849 |
Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hiatus hernia, Pulmonary ... |
ORPHA:3342 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Cataract, Hypergonadotropic hypogonadism, Pigmentary retinopathy |
OMIM:614307 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p... |
OMIM:612284 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Bilateral ptosis, Pigmentary retinopathy, Cardiomyopathy, Scoliosis, Hearing impairment |
ORPHA:329336 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Joubert Syndrome 28 |
|
Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Radio-Tartaglia Syndrome |
|
Tremor, Large earlobe, Low-set ears, Conductive hearing impairment, Hearing impairment |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Chung-Jansen Syndrome |
|
Short nose, Anteverted nares |
OMIM:617991 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Abnormal eyelid morphology,... |
OMIM:300855 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, Megaloc... |
OMIM:211380 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Single transverse palmar cre... |
OMIM:309801 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... |
ORPHA:56304 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinod... |
OMIM:619721 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
Juvenile Polyposis Of Infancy |
|
Depressed nasal bridge, Patent ductus arteriosus, Abnormal heart morphology, Midclavicular hypopl... |
ORPHA:79076 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Mosaic Variegated Aneuploidy Syndrome |
|
Micrognathia, Depressed nasal ridge, Abnormality of skin pigmentation, Holoprosencephaly, Aplasia... |
ORPHA:1052 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Prominent nasal bridge, Broad nasal tip |
OMIM:613544 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcificati... |
OMIM:610651 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect |
OMIM:314320 |
Odontochondrodysplasia |
|
Death in infancy, Short nose, Depressed nasal bridge |
ORPHA:166272 |
Kabuki Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Microcornea, Coloboma, Cond... |
ORPHA:2322 |
Hurler Syndrome |
|
Frontal bossing, Abnormal clavicle morphology, Death in infancy, Corneal opacity, Camptodactyly o... |
ORPHA:93473 |
Rhyns Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:602152 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Uveitis, Rib exostoses, Clinodactyly of the 5th finger, Hypothyroidism, Sparse eyeb... |
ORPHA:2108 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... |
OMIM:609192 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:613604 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Conductive hearing impairment, Sensorineural hearing impairment, Dystonia |
ORPHA:261197 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... |
OMIM:151100 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Microcephaly, Central hypoth... |
ORPHA:1667 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Axial Mesodermal Dysplasia Spectrum |
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Omphalocele, Micrognathia, Missing ribs, Short neck, Hydrocephalus, Abnormal rib morphology, Abno... |
ORPHA:1834 |
Usher Syndrome |
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Abnormal vestibular function, Abnormality of dental color, Cataract, Abnormality of retinal pigme... |
ORPHA:886 |
Czeizel-Losonci Syndrome |
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Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, H... |
ORPHA:2437 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect |
ORPHA:3369 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Irregularly spaced teeth, Recurrent sinusitis, Umbilical... |
OMIM:130000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Mitral regurgitation |
OMIM:301039 |
Orofaciodigital Syndrome Xix |
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Epicanthus, Toe syndactyly, Underfolded helix, Broad hallux, Type A brachydactyly, Thick nasal al... |
OMIM:620107 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atri... |
ORPHA:329224 |
Lethal Congenital Contracture Syndrome Type 1 |
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Low-set, posteriorly rotated ears, Micrognathia, Short neck, Abnormality of the elbow, Abnormal r... |
ORPHA:1486 |
Autism, Susceptibility To, X-Linked 6 |
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Underdeveloped nasal alae, Ptosis |
OMIM:300872 |
Zttk Syndrome |
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Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Atrial septal defect, Depressed nasal b... |
OMIM:617140 |
Retinitis Pigmentosa 19 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Peters-Plus Syndrome |
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Single transverse palmar crease, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:261540 |
Autosomal Recessive Spastic Paraplegia Type 15 |
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Peripheral axonal neuropathy, Diabetes mellitus, Pigmentary retinopathy, Abnormal cerebral white ... |
ORPHA:100996 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M... |
ORPHA:1865 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Conductive hearing impairment, Paroxysmal vertigo, Pulsatile tinnitus |
ORPHA:276621 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Abnormality of retinal pigmentation, Anterior hypopit... |
ORPHA:480 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Epicanthus, Bowing of the long bones, Promi... |
ORPHA:1225 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activity |
OMIM:617802 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Phocomelia, Split hand, Foot polydactyly |
ORPHA:3004 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Cataract, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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Narrow nasal bridge, Short nose, Cataract |
ORPHA:544503 |
Cerebellar Ataxia-Hypogonadism Syndrome |
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Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ... |
ORPHA:1173 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender l... |
OMIM:259420 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Septopreoptic Holoprosencephaly |
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Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Gollop-Wolfgang Complex |
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Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose, Pterygium |
ORPHA:93329 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Pulmonic stenosis, Atrial septa... |
OMIM:607721 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol... |
ORPHA:91387 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Uveitis, Pectus carinatum, Abnorm... |
ORPHA:828 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Metatarsus add... |
ORPHA:513456 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Microcephaly, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Ro... |
OMIM:300578 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Large basal ganglia, Pectus carinatum, Microcornea, Chorioretinal coloboma, Atr... |
OMIM:235730 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
Kbg Syndrome |
|
Single transverse palmar crease, Short neck, Synophrys, Protruding ear, Thoracic kyphosis, Short ... |
OMIM:148050 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Cataract, Optic atrophy, Wide nasal bridge, Ectopia pupillae, Astigmatism, Microphthalmia, Thick ... |
OMIM:618727 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Short ne... |
OMIM:210710 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Cataract, Abnormal pulmonary valve morphology, A... |
ORPHA:974 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Cerebral calcification, Abnormal cerebral vasc... |
ORPHA:3453 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Short columella, Anteverted nares, Short nose |
ORPHA:171839 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Proximal muscle weakness in upper limb... |
ORPHA:466768 |
Cowden Syndrome 5 |
|
Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, G... |
OMIM:615108 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningoce... |
ORPHA:991 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... |
OMIM:613309 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Microcornea, Wrist flexion con... |
ORPHA:800 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Depressed nasal bridge, Abnormality iris morphology, Broad nasal tip |
ORPHA:250999 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Death in childhood, Short ... |
OMIM:613320 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Pectus excavatum, Kyphosis, Hydrocephalus, Thin... |
OMIM:616294 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Microcephaly, Midnasal... |
ORPHA:280200 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... |
OMIM:617021 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Turricephaly, Abnormally ossified vertebrae, Abnormal morpholo... |
ORPHA:2167 |
Trichorhinophalangeal Syndrome Type 2 |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear |
ORPHA:502 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Pulmonic stenosis |
OMIM:257300 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... |
OMIM:606164 |
Hartsfield Syndrome |
|
Wide nose, Posteriorly rotated ears, Alobar holoprosencephaly, Lobar holoprosencephaly, Low-set e... |
OMIM:615465 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:610536 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Abnormal earlobe morphology, Atresia of the external auditory c... |
ORPHA:2980 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal degeneratio... |
OMIM:209900 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
OMIM:115150 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the clavicles, Cataract, Hearing impairment, A... |
ORPHA:90153 |
Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roof, Genu valgum, Abn... |
ORPHA:2976 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic astigmatism, Irregula... |
OMIM:252600 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, Femoral bowing, Narrow chest, Conductive hearing impairment, Abnormality of the wr... |
ORPHA:95699 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Absent ossification of calvaria, Thin ribs, T... |
OMIM:166210 |
Gomez-Lopez-Hernandez Syndrome |
|
Short nose, Anteverted nares, Opacification of the corneal stroma |
OMIM:601853 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614744 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasal ridge, Abn... |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Peroxisome Biogenesis Disorder 2B |
|
Epicanthus, Anteverted nares, Wide nasal bridge, Polar cataract, Adrenal insufficiency, Low-set ears |
OMIM:202370 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Achondrogenesis |
|
Short nose, Anteverted nares |
ORPHA:932 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Short nose, Cataract, Depressed nasal bridge |
OMIM:617988 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment |
ORPHA:141 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Seco... |
ORPHA:397951 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Short neck, Synophrys, Clinodactyly of the 5th finger, Agenesis of corpus callosum,... |
ORPHA:96092 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Posteriorly rotated ears, Arachnodactyly, Long palm, Tapered ... |
ORPHA:2215 |
Cowden Syndrome 6 |
|
Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, G... |
OMIM:615109 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De... |
OMIM:616362 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Micrognathi... |
OMIM:247200 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Large placenta, Abnormal heart morphology, Umbilical hernia |
ORPHA:254534 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Pulmonary artery sling, Coronary sinus enl... |
OMIM:619268 |
D-Bifunctional Protein Deficiency |
|
Epicanthus, Depressed nasal bridge, Cerebral dysmyelination, Micrognathia, Decreased nerve conduc... |
OMIM:261515 |
Monosomy 9Q22.3 |
|
Cataract, Short neck, Palmar pits, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morpho... |
ORPHA:77301 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Underdeveloped nasal alae, Upper eyelid edema, Hip dysplasia, Low insertion of co... |
ORPHA:412035 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Developmental catara... |
OMIM:613154 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Depressed nasal ridge |
OMIM:616854 |
Keutel Syndrome |
|
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... |
OMIM:245150 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Short nose, Anteverted nares |
OMIM:617201 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Cutaneous finger syndactyly, Short palm, Agenesis of corpus call... |
OMIM:618419 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:618885 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Abnormality of the ear, Broa... |
OMIM:268020 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Anteverted nares, Abnormal pupil morphology, Limbal dermoid, Hetero... |
ORPHA:2969 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Optic atrophy, Wide nasal bridge, Short nose, Broad colume... |
OMIM:619383 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Kyphosis, Scoliosis |
OMIM:618234 |
Raine Syndrome |
|
Mandibular prognathia, Death in infancy, Bowing of the long bones, Natal tooth, Micromelia, Protr... |
OMIM:259775 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
You-Hoover-Fong Syndrome |
|
Brachydactyly, Kyphoscoliosis, Microcephaly, Pectus excavatum, Coarctation of aorta, Vascular rin... |
OMIM:616954 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Micrognathia, Sparse eyebrow, Carious teeth, Underdeveloped nasal alae, N... |
OMIM:604173 |
White-Kernohan Syndrome |
|
Synophrys, Broad medial eyebrow, Hypothyroidism, Simple ear, Anteverted nares, Depressed nasal br... |
OMIM:619426 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... |
OMIM:615668 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
Bainbridge-Ropers Syndrome |
|
Cerebellar vermis hypoplasia, Arachnodactyly, Prominent nasal bridge, Highly arched eyebrow, Micr... |
ORPHA:352577 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Short t... |
OMIM:601559 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
19P13.12 Microdeletion Syndrome |
|
Conductive hearing impairment, External ear malformation, Sensorineural hearing impairment, Low-s... |
ORPHA:254346 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Smith-Magenis Syndrome |
|
Retinal detachment, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Microcornea, Sho... |
ORPHA:819 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... |
OMIM:618494 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Simplified gyral pa... |
OMIM:616835 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulinemia, Finger clinodactyl... |
ORPHA:79474 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Inguinal hernia, Short femur, Metaphyseal spurs, Pa... |
OMIM:618188 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Abn... |
ORPHA:261552 |
Non-Distal Duplication 13Q |
|
Short nose, Aplasia/Hypoplasia affecting the eye |
ORPHA:1702 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Clinodactyly of the 5th finger, Conductive hearing impairment,... |
OMIM:300373 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, Abnormal nasal morphology, Pa... |
ORPHA:578 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... |
OMIM:611209 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Hydrocephalus, Esophageal varix, Hip dysplasia, Inflamma... |
OMIM:614576 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Short neck, Humeroradia... |
ORPHA:3404 |
Cowden Syndrome 1 |
|
Cataract, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, G... |
OMIM:158350 |
Char Syndrome |
|
No permanent dentition, Patent ductus arteriosus, Ventricular septal defect, Persistence of prima... |
ORPHA:46627 |
Sclerosteosis 1 |
|
Frontal bossing, Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Opti... |
OMIM:269500 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent nasolabial fold, Recurrent upper respiratory tract infections, Short nose, Broad nasal tip |
ORPHA:391372 |
Kinsship Syndrome |
|
Mandibular prognathia, Death in infancy, Thin upper lip vermilion, Single transverse palmar creas... |
OMIM:619297 |
Lambotte Syndrome |
|
Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lon... |
OMIM:619995 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar aplasia, Slender lon... |
OMIM:613804 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Ventricular septal defect, Aortic root aneurysm, Atrial septal defect |
OMIM:145420 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... |
ORPHA:2331 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Prune Belly Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Micrognathia, Microcephaly, Depressed nasal ridge, Pigmentary re... |
OMIM:600462 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... |
OMIM:606003 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral single transverse palmar creases, Camp... |
ORPHA:96167 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Synoph... |
ORPHA:90024 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae,... |
OMIM:618733 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment |
ORPHA:2578 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment |
OMIM:126550 |
Peho Syndrome |
|
Short nose, Optic atrophy |
OMIM:260565 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Tapered finger, Short neck, Kyphoscoliosis, Synophrys, Reduced cerebral wh... |
OMIM:615803 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose |
OMIM:300143 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Cerebellar he... |
ORPHA:500150 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Clinodactyly of the ... |
OMIM:616145 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Microcephaly, Hip dislocation, Death in adolescence, Pigmentary retinopathy, Scoliosis |
OMIM:619059 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Achondrogenesis Type 1A |
|
Short nose, Anteverted nares |
ORPHA:93299 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Posteriorly rotated ears, Symblepharon, Retinal dystrophy, Blepharophimosis, Narrow n... |
OMIM:618175 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Microcephaly, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Optic... |
ORPHA:79282 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Long nose, Underdeveloped nasal alae... |
ORPHA:457351 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares |
OMIM:619356 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Delayed eruption of teeth, Tricuspid regurgitation... |
OMIM:143095 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Microcephaly, Retinal pigment epithelial mottling, Partial agen... |
OMIM:619517 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Fanconi Anemia, Complementation Group P |
|
Micrognathia, Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Bulbous nose, Bl... |
OMIM:613951 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment |
ORPHA:561 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Brachydactyly, Abnormal pinna morphology, Single transverse p... |
OMIM:610253 |
Triploidy |
|
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge |
OMIM:614732 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long hallux, Long thumb, Flat acetabular roo... |
OMIM:600002 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal p... |
ORPHA:1433 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Tibial... |
OMIM:231070 |
Townes-Brocks Syndrome |
|
Chorioretinal coloboma, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger... |
ORPHA:857 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Brachydactyly, Coxa valga, Microcephaly, Upslant... |
ORPHA:2163 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal... |
ORPHA:3015 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Short neck, Intercrural pterygium, Conductive hearing impairment, Camptodactyly of ... |
OMIM:265000 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Conotruncal defect, Coarctation of aorta, Abnormal cardiac... |
ORPHA:96147 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co... |
OMIM:614976 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Chronic otitis media |
OMIM:244400 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Epicanthus, Brachydactyly, Anteverted nares, Depressed nasal bridge, Un... |
OMIM:608624 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax,... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax,... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax,... |
ORPHA:881 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Tetrasomy 18P |
|
Short nose |
ORPHA:3307 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Optic atrophy, Anteverted nares |
ORPHA:1185 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:249620 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Abnormally large globe, Cubitus valgus, Coxa valga, Flared metaphysis, Genu val... |
OMIM:269300 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Okamoto Syndrome |
|
Abnormally large globe, Primum atrial septal defect, Anteverted nares, Depressed nasal bridge, Ab... |
ORPHA:2729 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ... |
OMIM:617781 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
Kniest Dysplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:156550 |
Melas |
|
Basal ganglia calcification, Agenesis of corpus callosum, Hypothyroidism, Hypoparathyroidism, Hyp... |
ORPHA:550 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Abnormal pinna morphology, Broad nasal tip, Preaxial... |
ORPHA:1297 |
Al-Raqad Syndrome |
|
Short nose |
OMIM:616459 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Ptosis, Anteverted nares, Pectus excavatu... |
ORPHA:1969 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Posteriorly rotated ears, Spina bifida, Tapered finger, Broad nasal tip, Patent ductu... |
OMIM:619480 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Short nose |
OMIM:601675 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Stickler Syndrome, Type I |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:108300 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Partial agenesis of the corpus callosum, Prominent interphalange... |
OMIM:135900 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Death in infancy, Diabetes mellitus, Dextroca... |
ORPHA:2315 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:93328 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia |
OMIM:602196 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Optic atrophy |
OMIM:256600 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Low-set ears |
ORPHA:2470 |
Costello Syndrome |
|
Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, A... |
OMIM:218040 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Cal... |
ORPHA:261537 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Sparse eyelashes, Abnormal dental enamel morph... |
ORPHA:2909 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Ventricular septal defect, Micrognathia, Kyphosis, Patent ductus arteriosus, Tetralogy of... |
OMIM:153400 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Lagophthalmos, Coxa valga... |
ORPHA:404454 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Kyph... |
OMIM:610915 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Cataract, Anteverted nares, Short nose |
OMIM:617822 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Spina bifida, Sensorineural hearing impairment, Full cheeks, Spina bif... |
ORPHA:3219 |
Coffin-Siris Syndrome |
|
Simplified gyral pattern, Papillary thyroid carcinoma, Atrial septal defect, Thick nasal alae, Ag... |
ORPHA:1465 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Radial club hand, Patent ... |
OMIM:617053 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Anteverted nares, Single transverse palmar crease, Depressed nasal bridge,... |
OMIM:300912 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ... |
ORPHA:1765 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat... |
ORPHA:90154 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Pectus carinatum, Vertebral segmentation def... |
OMIM:312870 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Medial flaring of the eyebrow, Prominent na... |
ORPHA:110 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Polydactyly |
ORPHA:314655 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Mend Syndrome |
|
Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Hydrocephalus, 2-3 ... |
OMIM:300960 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro... |
OMIM:615948 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma, Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:251450 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Ectopia lentis, Lens luxation |
OMIM:252160 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Hearing impairment, Prominent nose, Hypohidrosis, Anisocoria, Adrenal in... |
OMIM:615510 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra... |
ORPHA:363700 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Wide nasal br... |
OMIM:300749 |
Sotos Syndrome |
|
Posteriorly rotated ears, Low-set ears, Otitis media, Conductive hearing impairment, Macrotia |
OMIM:117550 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Persistent left ... |
OMIM:619488 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618870 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal a... |
OMIM:194050 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Micrognathia, Short neck, Patent ductus arteriosus, Upslanted palpebral fissure, Abnormal aortic ... |
ORPHA:2001 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Cal... |
ORPHA:2152 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Aplasia/Hypoplasia of the patella, Micrognathia, Hypoplasia of the maxilla, Pa... |
OMIM:613803 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Telecanthus, Epicanthus, Anteverted nares, Microcephaly, External ear malformation, Broad nasal t... |
ORPHA:438216 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Kyphoscoliosis, Microcephaly, Carious... |
OMIM:612079 |
Rabin-Pappas Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:620155 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Stroke-like episode, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus |
ORPHA:79095 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment |
OMIM:123000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Sensorineural hearing impairment, Optic atrophy, Leukoencephalopathy, Pigmentary retinopathy, Dea... |
OMIM:220110 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth... |
OMIM:129900 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... |
OMIM:612731 |
Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Low-set ears |
OMIM:244300 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Mixed hearing impairment |
OMIM:620012 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Short nose, Cataract, Prominent nasal bridge |
ORPHA:65286 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge |
OMIM:608776 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Depressed nasal bridge, Malar pr... |
ORPHA:231226 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Turricephaly, Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal c... |
ORPHA:93317 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Depressed nasal bridge, Short nose |
OMIM:618430 |
Down Syndrome |
|
Depressed nasal bridge, Cataract, Depressed nasal ridge, Short nose |
ORPHA:870 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Recurrent upper respiratory tract infections, Optic atrophy |
ORPHA:3078 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Pericardial effusion, Metaphyseal sclerosis, Abnormality of the e... |
ORPHA:2905 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Lathosterolosis |
|
Cataract, Anteverted nares, Bulbous nose, Microcornea, Opacification of the corneal stroma, Short... |
ORPHA:46059 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... |
ORPHA:97685 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Amish Lethal Microcephaly |
|
Spina bifida, Micrognathia |
ORPHA:99742 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Cataract, Anteverted nares |
OMIM:612394 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Mitra... |
OMIM:123700 |
Microtia-Anotia |
|
Holoprosencephaly, Anotia, Microtia |
OMIM:600674 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... |
ORPHA:1708 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Short nose, Anteverted nares |
ORPHA:1915 |
Adnp Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe... |
ORPHA:404448 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Progressive leukoencephalopathy, Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural h... |
ORPHA:436271 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment |
OMIM:602080 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Aganglionic megacolon, Promin... |
ORPHA:163746 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, White... |
ORPHA:79432 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Ventricular septal defect, Anteverted nare... |
ORPHA:1780 |
Gapo Syndrome |
|
Keratoconus, Depressed nasal bridge, Anteverted nares, Retinal arteriolar tortuosity, Optic atrop... |
OMIM:230740 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Short nose, Wide nasal bridge |
OMIM:618005 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Midface retrusion, Absent thumb |
OMIM:617784 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... |
OMIM:615879 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Single transverse palmar crease, Decreased nerve conduction velocity, Sensorin... |
OMIM:614863 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Peripheral axonal neuropathy, Cataract, Scapular winging, Retinal p... |
OMIM:607459 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarche, Hypopigm... |
ORPHA:739 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Clinodactyly of the 5th finger, Advanced eruption of teeth, Finger syndacty... |
ORPHA:1519 |
Hennekam-Beemer Syndrome |
|
Conductive hearing impairment, Microtia, Hearing impairment |
ORPHA:2135 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Meningocele |
ORPHA:3456 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect |
ORPHA:261190 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Diabetes mellitus, Scoliosis |
ORPHA:96 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Caudal Duplication |
|
Omphalocele, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Optic atrophy, Short nose |
OMIM:615851 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Depressed nasal brid... |
OMIM:267750 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment |
OMIM:218400 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Symblepharon, Short neck, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:113000 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose |
OMIM:615539 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:616430 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... |
OMIM:300968 |
Immunodeficiency 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:615816 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Epicanthus, Sinusitis, Sandal gap, Choanal atresia, Micrognathia, Ma... |
OMIM:251260 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Short nose |
ORPHA:391408 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Abn... |
ORPHA:54595 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... |
OMIM:617527 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Hyperthyroidism, Micrognathia, Pectus excavatum, Pigmentary retinopathy, S... |
OMIM:617675 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Back pain, Cerebral dysmyelination, Axonal degeneration, Primary ... |
ORPHA:139399 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly |
ORPHA:531151 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Microcephaly, Basal ganglia calcification, Sensorineural h... |
OMIM:530000 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Shoulder dislocation, Dislocated radial head, Hiatus ... |
ORPHA:287 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus... |
ORPHA:216866 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Deafness-Craniofacial Syndrome |
|
Underdeveloped nasal alae, Sensorineural hearing impairment, Patent ductus arteriosus, Wide nasal... |
ORPHA:3241 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Bulbous nose, Depressed nasal ridge, Short columella, Astigmatism, Short nose |
OMIM:156200 |
Chops Syndrome |
|
Optic atrophy, Short nose, Cataract, Anteverted nares |
OMIM:616368 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Depressed nasal bridge, Malar pr... |
ORPHA:231214 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose |
ORPHA:261211 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Spina bifida, Micrognathia, Full cheeks, Pro... |
ORPHA:261318 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Frontal bossing, Bowing of the long bones, Craniosynostosis, Beaded... |
ORPHA:89936 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Low-set ears, Lop ear |
OMIM:300472 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Underdeveloped nas... |
OMIM:619005 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... |
OMIM:300963 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose |
OMIM:617061 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose |
OMIM:613038 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Pigmentary retinopathy, Axenfeld anomaly,... |
OMIM:266270 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Mydriasis, Optic neuropathy, Increased intervertebral space, O... |
OMIM:619727 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, ... |
OMIM:158170 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Telecanthus, Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Long palpebral fissure |
OMIM:616158 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose |
OMIM:618087 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Overlapping toe, Dental crowding, Hypoplasia of the maxilla, Narrow mouth,... |
OMIM:617402 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Conductive hearing impairment, Hearing abnormality, Low-set ears, Hearing impairment |
ORPHA:2990 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... |
OMIM:614114 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Short nose, Cataract, Depressed nasal bridge, Megalocornea |
OMIM:601353 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery ste... |
ORPHA:261494 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnor... |
ORPHA:3003 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Optic atrophy, Short nose |
ORPHA:357001 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Single transverse palmar crease, Micrognathia, Choanal stenosis, Arachn... |
ORPHA:83617 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:616897 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver... |
OMIM:271520 |
Larsen Syndrome |
|
Conductive hearing impairment |
ORPHA:503 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Umbilical hernia |
ORPHA:93400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognathia, Rhi... |
ORPHA:397715 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Severe sensorineural hearing impairment, Meningocele, Depressed nasal ridge, Absent nasal septal ... |
ORPHA:2003 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect |
OMIM:616777 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Carious teeth, Hypopla... |
OMIM:182250 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Ptosis |
OMIM:612291 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Astigmatism, Broad nasal tip |
ORPHA:293948 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip... |
OMIM:604292 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Trisomy 9P |
|
Abnormal nasal morphology, Abnormal pupil morphology |
ORPHA:236 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect |
OMIM:615630 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Prolidase Deficiency |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Joubert Syndrome 37 |
|
High palate, Postaxial polydactyly |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hearing impairment, Mottled pigmentation of photoexposed areas, Death in adolescence, Pigmentary ... |
OMIM:560000 |
Lowry-Wood Syndrome |
|
Microcephaly, Prominent nose, Squared iliac bones, Limited elbow extension, Hip dislocation, Elbo... |
OMIM:226960 |
Pearson Syndrome |
|
Hypoparathyroidism, Cataract, Diabetes mellitus, Decreased response to growth hormone stimulation... |
ORPHA:699 |
Alport Syndrome |
|
Posterior subcapsular cataract, Sensorineural hearing impairment, Renal glomerular foam cells, Ab... |
ORPHA:63 |
Distal Deletion 10Q |
|
Prominent nasal bridge, Prominent nose, Wide nasal bridge, Astigmatism, Short nose |
ORPHA:96148 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy, Wide nasal bridge |
OMIM:201180 |
16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Short nose |
ORPHA:485405 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Hyperpigme... |
OMIM:601803 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:2983 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Cupped ear, Low-set ears |
OMIM:615560 |
Fetal Hydantoin Syndrome |
|
Short nose, Depressed nasal ridge |
ORPHA:1912 |
Smith-Kingsmore Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:616638 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Cleft palate, Broad philtrum, F... |
OMIM:613610 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Reni Syndrome |
|
Microcephaly, Sensorineural hearing impairment, Adrenal insufficiency, Hypogonadism, Hypothyroidi... |
OMIM:617575 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Wide nasal bridge |
OMIM:620250 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardi... |
OMIM:614294 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Pigmenta... |
ORPHA:3208 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
OMIM:619179 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... |
ORPHA:5 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Primrose Syndrome |
|
Cerebral calcification, Hypoplasia of the maxilla, Synophrys, Irregular vertebral endplates, Post... |
OMIM:259050 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears |
OMIM:235510 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Wide nose, Ventricular septal defect, Micrognathia, Pectus excavatum, Underdevel... |
OMIM:619525 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Short nose, Optic atrophy, Depressed nasal bridge |
OMIM:618590 |
Intellectual Disability-Strabismus Syndrome |
|
Short nose, Depressed nasal bridge, Narrow nasal ridge, Prominent nose |
ORPHA:363528 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Coarse metaphyseal trabecularization, Cataract, Diabetes mellitus, H... |
ORPHA:1775 |
Ruvalcaba Syndrome |
|
Short nose, Convex nasal ridge |
ORPHA:3121 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, Optic atrophy |
ORPHA:329178 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Abnormality of the ear, Depressed nasal ridge, Subcortical cerebral atr... |
ORPHA:2753 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, A... |
ORPHA:354 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Kyphoscoliosis, Cardiomegaly, Rod-cone dystrophy, Keratoconj... |
ORPHA:14 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip |
OMIM:618529 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
20Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal nasal bridge morphology, Sh... |
ORPHA:363659 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Pgm3-Cdg |
|
Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor... |
ORPHA:443811 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Ectopia lentis, Lens luxation |
OMIM:252150 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Pulmonary arteriovenous malformation, Narrow nasal ridge, Deve... |
OMIM:606721 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hypoplasia of the nasal bone |
OMIM:118650 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Syndromic Diarrhea |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent d... |
ORPHA:84064 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Prominent nasolabial fold, Astigmatism, Short nose |
ORPHA:2953 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose |
OMIM:266810 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Palmoplantar hyperkeratosis, Death in childhood, Shallow orbits, Patent foramen ova... |
OMIM:619127 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Progressive hearing impairment, Adrenal insufficiency, Increas... |
ORPHA:43 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares |
OMIM:613735 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Micrognathia, Microcephaly, Underdeveloped nasal alae, Patellar aplasi... |
OMIM:613800 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Congenital sensorineural hearing impairment, Elevated circulating ... |
OMIM:617872 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmen... |
ORPHA:157850 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, Atrial septal d... |
OMIM:107480 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Pericardial effusion, D... |
ORPHA:167 |
Loeys-Dietz Syndrome 5 |
|
Inguinal hernia, Ventricular septal defect, Hiatus hernia, Aortic root aneurysm, Mitral regurgita... |
OMIM:615582 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Bifid nose, Thick nasal alae |
ORPHA:1827 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Anteverted nares, Posterior subcapsular cataract, Bulbous nose, Short nose |
OMIM:271510 |
Immunodeficiency 54 |
|
Microcephaly, Adrenal insufficiency, Hyperpigmentation of the skin, Adrenocorticotropic hormone e... |
OMIM:609981 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Peho Syndrome |
|
Short nose, Optic atrophy, Anteverted nares |
ORPHA:2836 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, A... |
ORPHA:2745 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphth... |
OMIM:613150 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th fi... |
ORPHA:373 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... |
OMIM:614557 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614749 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Conductive hearing impairment, Mixed hearing impairment, Overfolded helix, Sensorineural hearing ... |
OMIM:300990 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Alpha-Mannosidosis, Adult Form |
|
Mixed hearing impairment |
ORPHA:309288 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... |
ORPHA:466943 |
Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Macular dystrophy, Enamel ... |
OMIM:234580 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Iris hypopigmentation, Broad nasal tip, Prominent nose, Sh... |
ORPHA:177907 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:615398 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Astigmatism |
ORPHA:457279 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the hand, Hypogonadotropic hypog... |
ORPHA:157954 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery st... |
OMIM:300998 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:2502 |
Codas Syndrome |
|
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment |
OMIM:600373 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Depressed nasal bridge, Microcornea, Microphthalmia, Short nose, Zonular cataract |
OMIM:268400 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Adrenal calcification, Hepatic foam cells, Bone-marrow foam cells, Adrenal insu... |
OMIM:278000 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge |
ORPHA:93258 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:215150 |
C Syndrome |
|
Omphalocele, Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Subretinal pigment epithelium hemorrhage, Broad nasal tip, Prominent nasolabial... |
ORPHA:357074 |
Macrocephaly/Autism Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:605309 |
Distal Deletion 9P |
|
Short nose, Wide nasal bridge |
ORPHA:1642 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:608013 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Neu-Laxova Syndrome |
|
Spina bifida, Micrognathia, Trismus, Macrotia, Depressed nasal ridge, Retrognathia |
ORPHA:2671 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect |
ORPHA:1782 |
Tetrasomy 5P |
|
Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:3309 |
3Mc Syndrome 1 |
|
Omphalocele, Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, At... |
OMIM:257920 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Choanal stenosis, Conductive... |
OMIM:201750 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Leukocyte Adhesion Deficiency Type Ii |
|
Conductive hearing impairment, Small earlobe, Microtia, Recurrent otitis media |
ORPHA:99843 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Type I diabetes mellitus... |
ORPHA:96180 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Short nose |
OMIM:608022 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis |
ORPHA:1764 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Microcephaly, Broad nasal tip, Underdeveloped nasal alae, Low hanging columella, Hypoplasia of th... |
ORPHA:404473 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Dend Syndrome |
|
Short nose, Anteverted nares |
ORPHA:79134 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Bone-marrow foam cells |
ORPHA:75233 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:239300 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Lathosterolosis |
|
Cataract, Anteverted nares, Wide nasal bridge, Opacification of the corneal stroma, Short nose |
OMIM:607330 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Short nose, Anteverted nares |
OMIM:219200 |
Cockayne Syndrome Type 3 |
|
Adult onset sensorineural hearing impairment, Conductive hearing impairment, Macrotia, Abnormalit... |
ORPHA:90324 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Kera... |
ORPHA:1163 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ... |
OMIM:616894 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis... |
OMIM:235255 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Lacrimal duct stenosis, Ventricular septal defect, ... |
OMIM:301068 |
Oculocerebrorenal Syndrome Of Lowe |
|
Flat occiput, Micrognathia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Low-set, post... |
ORPHA:534 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism, Abnormal heart morphology |
ORPHA:85445 |
Congenital Myopathy 13 |
|
Conductive hearing impairment, Low-set ears |
OMIM:255995 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Chromosome 17P13.1 Deletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Spina bifida, Prominent nasal bridge, Posteriorly rotat... |
OMIM:613776 |
Aymé-Gripp Syndrome |
|
Cataract, Depressed nasal bridge, Developmental cataract, Short nose, Megalocornea |
ORPHA:1272 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Hypohidrosis, Hyperpigmentation of the skin, Low h... |
OMIM:301845 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Decreased circulating cortisol level, Adrenal hypoplasia, Vertigo, Prima... |
ORPHA:95409 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Syndactyly, Short metacarpal, Scapular winging, Chronic gastritis, Single ... |
OMIM:150230 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Xp21 Deletion Syndrome |
|
Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Finger clinodactyly, Adrenal insuff... |
ORPHA:261476 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Decreased circulating cortisol level, Myelopathy, Primary adrenal i... |
ORPHA:139396 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneury... |
ORPHA:444072 |
Adrenomyodystrophy |
|
Megalocornea, Generalized hyperpigmentation, Primary adrenal insufficiency |
ORPHA:977 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:91355 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M... |
OMIM:610682 |
Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Popliteal p... |
ORPHA:1300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose |
ORPHA:50810 |
Native American Myopathy |
|
Conductive hearing impairment |
ORPHA:168572 |
Gaucher Disease, Type Ii |
|
Trismus, Death in infancy, Double aortic arch, Cerebral atrophy |
OMIM:230900 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Ayme-Gripp Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Developmental cataract |
OMIM:601088 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Prominent nasal bridge, Short nose, Convex nasal ridge |
ORPHA:251028 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Inguinal hernia, Mandibular prognathia, Adrenocortical cytomegaly, Car... |
ORPHA:116 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Diabetes mellitus, Cerebral calcification... |
OMIM:219800 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:217980 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Inguinal hernia, Ventricular septal defect |
OMIM:616449 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Dilated cardi... |
ORPHA:255210 |
Mucolipidosis Type Ii |
|
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media |
ORPHA:576 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma |
ORPHA:122 |
Hunter-Macdonald Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:611962 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Short nose |
OMIM:608779 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short nose, Depressed nasal bridge, Convex nasal ridge, Death in childhood |
OMIM:300661 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Optic atrophy, Depressed nasal bridge, Wide nasal bridge |
OMIM:613457 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:261236 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Wide nasal bridge... |
OMIM:617157 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Depressed nasal bridge |
OMIM:616723 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... |
OMIM:614947 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Pfeiffer Syndrome Type 3 |
|
Short nose, Depressed nasal bridge, Choanal atresia |
ORPHA:93260 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Larsen Syndrome |
|
Conductive hearing impairment, Hearing impairment |
OMIM:150250 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... |
ORPHA:79329 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing impairment |
ORPHA:536545 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Hennekam Syndrome |
|
Conductive hearing impairment, External ear malformation, Low-set ears |
ORPHA:2136 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Bilateral conductive hearing impairment, Hearing impairment |
ORPHA:488642 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Microcornea, Peripapillary atrophy, Short nose |
ORPHA:536467 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Hajdu-Cheney Syndrome |
|
Conductive hearing impairment, Large earlobe, Low-set ears |
OMIM:102500 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Holoprosencephaly |
OMIM:612530 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Death in childhood, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:243800 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinus calcaneus, Cardiomyopathy, Pigmentary retinopathy, Left ventricular h... |
ORPHA:746 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Abnormal optic nerve morphology, Short nose |
ORPHA:109 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Decreased serum leptin, Abnormally large globe, Micrognathia, Microcephaly, ... |
OMIM:614098 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1358 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septa... |
ORPHA:96121 |
Desmosterolosis |
|
Short nose, Depressed nasal bridge, Abnormality of the nose |
ORPHA:35107 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... |
OMIM:615577 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:617023 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal corpus striatum morphology, Blep... |
ORPHA:48818 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Inguinal hernia, Ventricular septal defect, Pulmonary lymphangiectasia |
ORPHA:1655 |
Turnpenny-Fry Syndrome |
|
Torticollis, Microtia, Low-set ears, Conductive hearing impairment, Satyr ear |
OMIM:618371 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short nose |
ORPHA:1394 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal rib morphology, Abnormal epip... |
ORPHA:667 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:258480 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar h... |
ORPHA:2907 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... |
OMIM:618846 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Abnormal cerebral white matter morphology, Hypogonadism, Hyperpigm... |
OMIM:300100 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism |
OMIM:264350 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Hydrocephalus, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Left superior vena cava draining to coronary sinus, A... |
ORPHA:464738 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Abnormally large globe, Microcephaly, Micrognathia, Underdeveloped nasal ala... |
ORPHA:435628 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... |
OMIM:600145 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Short nose |
ORPHA:508533 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:261337 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage |
ORPHA:3042 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Wide nasal bridge, Ectopia lentis |
ORPHA:284979 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Plaa-Associated Neurodevelopmental Disorder |
|
Short nose, Optic atrophy |
ORPHA:521426 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... |
OMIM:269200 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Microcornea, Short columella, Astigmatism, Short nose, Abnormal anterior cham... |
OMIM:601776 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro... |
ORPHA:500095 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased circulating aldosterone level, Adrenal insufficiency, Increase... |
ORPHA:427 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Short nose |
OMIM:602398 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Severe conductive hearing impairment |
ORPHA:230851 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614080 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Low-set ea... |
ORPHA:314585 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Hyperpigmentation of the skin, Adrenocorticotropic hor... |
OMIM:613743 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Dilated cardiomyopathy, Hepatic necrosis, Pigmentary retinopathy, Hyper... |
ORPHA:71212 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Hematochezia |
OMIM:243150 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Adrenal calcif... |
ORPHA:85138 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypopigmente... |
ORPHA:3143 |
Esophageal Atresia |
|
Omphalocele, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
ORPHA:1199 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:301040 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p... |
ORPHA:480880 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Epistaxis, Pericardial effusion, Myocarditis, Vertigo, Orchitis, Subdural hem... |
ORPHA:99827 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Protruding ear, Tricuspid valve prolapse, Endocardi... |
ORPHA:1973 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Pigmentary retinopathy, Abnormal cornea morphology, Abnormal c... |
ORPHA:411629 |
Osteopetrosis With Renal Tubular Acidosis |
|
Conductive hearing impairment, Macrotia |
ORPHA:2785 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Deeah Syndrome |
|
Death in infancy, Death in adolescence, Death in childhood, Prominent nasal tip, Short nose |
OMIM:619004 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic facial bones |
OMIM:607326 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Microcephaly, Hydrocephalus, Pigmentary retinopathy, Low-set ears, Macrotia, Cerebral cortical at... |
OMIM:277400 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Inguinal hernia, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Polydactyly, Acromesomelia, Clin... |
ORPHA:464306 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Juvenile cataract, Anteverted nares, Cataract, Bulbous nose, Wide nasal bridge, Depressed nasal t... |
OMIM:619475 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Inguinal hernia, Ventricular septal defect |
OMIM:300000 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose |
ORPHA:457395 |
Distal Deletion 12Q |
|
Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears |
ORPHA:96149 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Inguinal hernia, Ventricular septal defect |
OMIM:178110 |
Omodysplasia 1 |
|
Depressed nasal bridge, Wide nasal bridge, Popliteal pterygium, Short nose, Axillary pterygium |
OMIM:258315 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Aortic regurgitation |
ORPHA:464311 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:2282 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Congenital Myopathy 22B, Severe Fetal |
|
Short nose, Wide nasal bridge |
OMIM:620369 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Anteverted nares, Depressed nasal bridge, Narrow nasal ri... |
OMIM:264090 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia |
OMIM:616682 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat... |
OMIM:234200 |
Dextrocardia |
|
Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Myasthenia Gravis |
|
Hyperthyroidism, Hearing impairment, Primary adrenal insufficiency, Abnormal thymus morphology, H... |
ORPHA:589 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:605039 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Bulbous nose, Wide nasal base, Short nose, Low hanging col... |
OMIM:601358 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ... |
ORPHA:93924 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Short nose, Anteverted nares, Prominent nasal bridge |
ORPHA:1974 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Pigmentary retinopathy, Dilated cardiomyopathy |
OMIM:609015 |
Den Hoed-De Boer-Voisin Syndrome |
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Delayed eruption of teeth, Ventricular septal defect |
OMIM:619229 |
Mosaic Trisomy 20 |
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Abnormal mitral valve morphology, Craniofacial asymmetry, Dysplastic tricuspid valve, Ventricular... |
ORPHA:1724 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Turricephaly, Corneal opacity, Camptodactyly of finger, Abnormal rib morpholog... |
ORPHA:2908 |
Fontaine Progeroid Syndrome |
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Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:612289 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Ventricular septal defect |
OMIM:617798 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Prominent nasal tip, Short nose |
ORPHA:522077 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:227330 |
Congenital Disorder Of Glycosylation, Type Iia |
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Ventricular septal defect |
OMIM:212066 |
Charcot-Marie-Tooth Disease Type 1E |
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Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Trichohepatoneurodevelopmental Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Renal Agenesis |
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Hypertension, Ventricular septal defect |
ORPHA:411709 |
Cone-Rod Dystrophy 2 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Neurofibromatosis, Type I |
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Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
Trisomy 10P |
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Depressed nasal bridge, Anteverted nares, Short nose, Abnormality of the nose |
ORPHA:171929 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Generalized hyperpigmentation, Adrenal calcification, Adren... |
ORPHA:289548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Depressed nasal bridge, Broad nasal tip, Bulbous nose, Optic atrophy, Short nose |
OMIM:309590 |
Chromosome 13Q14 Deletion Syndrome |
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Inguinal hernia, Ventricular septal defect, Holoprosencephaly, Umbilical hernia, Patent foramen o... |
OMIM:613884 |
Autoimmune Polyendocrinopathy Type 3 |
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Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis, Xerostomia, Primary... |
ORPHA:227982 |
Diamond-Blackfan Anemia |
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Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... |
ORPHA:124 |
Acrocephalopolydactylous Dysplasia |
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Short nose |
OMIM:200995 |
Ctcf-Related Neurodevelopmental Disorder |
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Anteverted nares, Broad nasal tip, Microcornea, Short columella, Short nose |
ORPHA:363611 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Cafe-au-lait spot, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary... |
ORPHA:300298 |
Wiedemann-Steiner Syndrome |
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Short nose, Wide nasal bridge |
ORPHA:319182 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... |
ORPHA:3047 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Generalized hyperpigmentation, Adrenal hypoplasia, Elevated... |
ORPHA:168558 |
Autoimmune Polyendocrinopathy Type 4 |
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Hypergonadotropic hypogonadism, Iridocyclitis, Xerostomia, Primary adrenal insufficiency, Thymoma... |
ORPHA:227990 |
Schinzel-Giedion Midface Retraction Syndrome |
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Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Choanal stenosis, Shor... |
OMIM:269150 |
Leigh Syndrome |
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Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Cornelia De Lange Syndrome |
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Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi... |
ORPHA:199 |
Geleophysic Dysplasia 2 |
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Short nose |
OMIM:614185 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Short nose, Anteverted nares |
ORPHA:280633 |
Autosomal Dominant Robinow Syndrome |
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Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
ORPHA:3107 |
Geleophysic Dysplasia 1 |
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Short nose, Anteverted nares |
OMIM:231050 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Ventricular septal defect |
OMIM:619306 |
Alpha-Mannosidosis, Infantile Form |
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Mixed hearing impairment, Otitis media, Sensorineural hearing impairment |
ORPHA:309282 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Inguinal hernia, Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricu... |
ORPHA:459070 |
Lysosomal Acid Lipase Deficiency |
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Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Primary adrenal insuff... |
ORPHA:275761 |
Ring Chromosome 7 Syndrome |
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Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Narrow naris, Short nose |
ORPHA:1449 |
Phakomatosis Pigmentokeratotica |
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Raynaud phenomenon, Arrhythmia, Spina bifida |
ORPHA:2874 |
Marden-Walker Syndrome |
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Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
Multiple System Atrophy 1, Susceptibility To |
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Iris atrophy |
OMIM:146500 |
Cloacal Exstrophy |
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Omphalocele, Myelomeningocele, Bladder exstrophy, Spina bifida |
ORPHA:93929 |
Meier-Gorlin Syndrome 7 |
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Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Lumbar Syndrome |
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Myelomeningocele, Bladder exstrophy, Spina bifida |
ORPHA:83628 |
Cone-Rod Dystrophy 10 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Trichothiodystrophy |
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Umbilical hernia, Ventricular septal defect, Cardiomyopathy |
ORPHA:33364 |
Sotos Syndrome |
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Tremor, Conductive hearing impairment, Chronic otitis media, Cholesteatoma, Hearing impairment |
ORPHA:821 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Coarctation of aorta, Hyperte... |
OMIM:270400 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil... |
OMIM:301044 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect |
OMIM:263520 |
Liver Disease, Severe Congenital |
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Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of ... |
OMIM:619991 |
C Syndrome |
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Death in infancy, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:1308 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Premature pubarche, Hypogonadotropic hypogonadism, Precocio... |
ORPHA:90794 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Optic nerve hypoplasia, Broad nasal tip, Wide nasal bridge, Prominent nasal tip, Short nose |
OMIM:620330 |
Pseudohypoaldosteronism, Type Iic |
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Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Neurooculorenal Syndrome |
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Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:620305 |
Exstrophy-Epispadias Complex |
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Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Abnormal heart morphology, Bladder exs... |
ORPHA:322 |
Carney Triad |
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Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma |
ORPHA:139411 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Omphalocele, Ventricular septal defect |
ORPHA:436252 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism |
OMIM:614496 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Polydactyly, Abnormal digit morphology, Holoprosencephaly, Median cleft lip and palate |
ORPHA:95494 |
Acute Liver Failure |
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Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Adrenal insufficiency, Hepati... |
ORPHA:90062 |
Glycerol Kinase Deficiency |
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Adrenocortical hypoplasia, Adrenal insufficiency, Low-set ears, Chronic pancreatitis |
OMIM:307030 |
Kabuki Syndrome 1 |
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Atrial septal defect, Hydrocephalus, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:619522 |
Robinow Syndrome, Autosomal Dominant 1 |
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Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:180700 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Ventricular septal defect |
OMIM:619418 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
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Aplasia/Hypoplasia of the radius |
ORPHA:2973 |
Fryns Syndrome |
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Atrial septal defect, Omphalocele, Ventricular septal defect |
OMIM:229850 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Unilateral deafness, Meningocele |
ORPHA:1010 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
Early Infantile Epileptic Encephalopathy |
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Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Penile Agenesis |
|
Short nose, Depressed nasal bridge |
ORPHA:49 |
Aspartylglucosaminuria |
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Short nose, Wide nasal bridge |
ORPHA:93 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Arima Syndrome |
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Occipital meningocele, Hypertension |
OMIM:243910 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Delayed eruption of teeth |
OMIM:606170 |
Vascular Ehlers-Danlos Syndrome |
|
Narrow nasal bridge, Keratoconus, Abnormal pupil morphology |
ORPHA:286 |